Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46018606_46018607dupCA2576299037MAPTc.911-12_911-11dup (n.911-12_911-11dup)
c.824-12_824-11dup (n.824-12_824-11dup)
c.998-12_998-11dup (n.998-12_998-11dup)
n.769-12_769-11dup
n.224-12_224-11dup
n.182-12_182-11dup
n.404_405dup
c.2174-12_2174-11dup (n.2174-12_2174-11dup)
c.1883-12_1883-11dup (n.1883-12_1883-11dup)
c.818-12_818-11dup (n.818-12_818-11dup)
c.947-12_947-11dup (n.947-12_947-11dup)
c.1949-12_1949-11dup (n.1949-12_1949-11dup)
c.731-12_731-11dup (n.731-12_731-11dup)
c.2003-12_2003-11dup (n.2003-12_2003-11dup)
c.905-12_905-11dup (n.905-12_905-11dup)
n.777-12_777-11dup
n.6190-12_6190-11dup
c.2261-12_2261-11dup (n.2261-12_2261-11dup)
c.2168-12_2168-11dup (n.2168-12_2168-11dup)
c.2087-12_2087-11dup (n.2087-12_2087-11dup)
c.2063-12_2063-11dup (n.2063-12_2063-11dup)
c.1970-12_1970-11dup (n.1970-12_1970-11dup)
c.1196-12_1196-11dup (n.1196-12_1196-11dup)
c.1109-12_1109-11dup (n.1109-12_1109-11dup)
c.1022-12_1022-11dup (n.1022-12_1022-11dup)
c.771+4328_771+4329dup (n.771+4328_771+4329dup)
n.829-12_829-11dup
17g.46018606_46018607delCA8618220MAPTc.911-12_911-11del (n.911-12_911-11del)
c.824-12_824-11del (n.824-12_824-11del)
c.998-12_998-11del (n.998-12_998-11del)
n.769-12_769-11del
n.224-12_224-11del
n.182-12_182-11del
n.404_405del
c.2174-12_2174-11del (n.2174-12_2174-11del)
c.1883-12_1883-11del (n.1883-12_1883-11del)
c.818-12_818-11del (n.818-12_818-11del)
c.947-12_947-11del (n.947-12_947-11del)
c.1949-12_1949-11del (n.1949-12_1949-11del)
c.731-12_731-11del (n.731-12_731-11del)
c.2003-12_2003-11del (n.2003-12_2003-11del)
c.905-12_905-11del (n.905-12_905-11del)
n.777-12_777-11del
n.6190-12_6190-11del
c.2261-12_2261-11del (n.2261-12_2261-11del)
c.2168-12_2168-11del (n.2168-12_2168-11del)
c.2087-12_2087-11del (n.2087-12_2087-11del)
c.2063-12_2063-11del (n.2063-12_2063-11del)
c.1970-12_1970-11del (n.1970-12_1970-11del)
c.1196-12_1196-11del (n.1196-12_1196-11del)
c.1109-12_1109-11del (n.1109-12_1109-11del)
c.1022-12_1022-11del (n.1022-12_1022-11del)
c.771+4328_771+4329del (n.771+4328_771+4329del)
n.829-12_829-11del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46018607T>ACA8618223MAPTc.911-11T>A (n.911-11T>A)
c.824-11T>A (n.824-11T>A)
c.998-11T>A (n.998-11T>A)
n.769-11T>A
n.224-11T>A
n.182-11T>A
n.405T>A
c.2174-11T>A (n.2174-11T>A)
c.1883-11T>A (n.1883-11T>A)
c.818-11T>A (n.818-11T>A)
c.947-11T>A (n.947-11T>A)
c.1949-11T>A (n.1949-11T>A)
c.731-11T>A (n.731-11T>A)
c.2003-11T>A (n.2003-11T>A)
c.905-11T>A (n.905-11T>A)
n.777-11T>A
n.6190-11T>A
c.2261-11T>A (n.2261-11T>A)
c.2168-11T>A (n.2168-11T>A)
c.2087-11T>A (n.2087-11T>A)
c.2063-11T>A (n.2063-11T>A)
c.1970-11T>A (n.1970-11T>A)
c.1196-11T>A (n.1196-11T>A)
c.1109-11T>A (n.1109-11T>A)
c.1022-11T>A (n.1022-11T>A)
c.771+4329T>A (n.771+4329T>A)
n.829-11T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46018607T=CA2262104721MAPTc.911-11T= (n.911-11T=)
c.824-11T= (n.824-11T=)
c.998-11T= (n.998-11T=)
n.769-11T=
n.224-11T=
n.182-11T=
n.405T=
c.2174-11T= (n.2174-11T=)
c.1883-11T= (n.1883-11T=)
c.818-11T= (n.818-11T=)
c.947-11T= (n.947-11T=)
c.1949-11T= (n.1949-11T=)
c.731-11T= (n.731-11T=)
c.2003-11T= (n.2003-11T=)
c.905-11T= (n.905-11T=)
n.777-11T=
n.6190-11T=
c.2261-11T= (n.2261-11T=)
c.2168-11T= (n.2168-11T=)
c.2087-11T= (n.2087-11T=)
c.2063-11T= (n.2063-11T=)
c.1970-11T= (n.1970-11T=)
c.1196-11T= (n.1196-11T=)
c.1109-11T= (n.1109-11T=)
c.1022-11T= (n.1022-11T=)
c.771+4329T= (n.771+4329T=)
n.829-11T=
17g.46018608delCA2638367810MAPTc.911-10del (n.911-10del)
c.824-10del (n.824-10del)
c.998-10del (n.998-10del)
n.769-10del
n.224-10del
n.182-10del
n.406del
c.2174-10del (n.2174-10del)
c.1883-10del (n.1883-10del)
c.818-10del (n.818-10del)
c.947-10del (n.947-10del)
c.1949-10del (n.1949-10del)
c.731-10del (n.731-10del)
c.2003-10del (n.2003-10del)
c.905-10del (n.905-10del)
n.777-10del
n.6190-10del
c.2261-10del (n.2261-10del)
c.2168-10del (n.2168-10del)
c.2087-10del (n.2087-10del)
c.2063-10del (n.2063-10del)
c.1970-10del (n.1970-10del)
c.1196-10del (n.1196-10del)
c.1109-10del (n.1109-10del)
c.1022-10del (n.1022-10del)
c.771+4330del (n.771+4330del)
n.829-10del
 gnomAD v4
17g.46018608T>CCA2638367812MAPTc.911-10T>C (n.911-10T>C)
c.824-10T>C (n.824-10T>C)
c.998-10T>C (n.998-10T>C)
n.769-10T>C
n.224-10T>C
n.182-10T>C
n.406T>C
c.2174-10T>C (n.2174-10T>C)
c.1883-10T>C (n.1883-10T>C)
c.818-10T>C (n.818-10T>C)
c.947-10T>C (n.947-10T>C)
c.1949-10T>C (n.1949-10T>C)
c.731-10T>C (n.731-10T>C)
c.2003-10T>C (n.2003-10T>C)
c.905-10T>C (n.905-10T>C)
n.777-10T>C
n.6190-10T>C
c.2261-10T>C (n.2261-10T>C)
c.2168-10T>C (n.2168-10T>C)
c.2087-10T>C (n.2087-10T>C)
c.2063-10T>C (n.2063-10T>C)
c.1970-10T>C (n.1970-10T>C)
c.1196-10T>C (n.1196-10T>C)
c.1109-10T>C (n.1109-10T>C)
c.1022-10T>C (n.1022-10T>C)
c.771+4330T>C (n.771+4330T>C)
n.829-10T>C
 gnomAD v4
17g.46018611G>ACA2638367813MAPTc.911-7G>A (n.911-7G>A)
c.824-7G>A (n.824-7G>A)
c.998-7G>A (n.998-7G>A)
n.769-7G>A
n.224-7G>A
n.182-7G>A
n.409G>A
c.2174-7G>A (n.2174-7G>A)
c.1883-7G>A (n.1883-7G>A)
c.818-7G>A (n.818-7G>A)
c.947-7G>A (n.947-7G>A)
c.1949-7G>A (n.1949-7G>A)
c.731-7G>A (n.731-7G>A)
c.2003-7G>A (n.2003-7G>A)
c.905-7G>A (n.905-7G>A)
n.777-7G>A
n.6190-7G>A
c.2261-7G>A (n.2261-7G>A)
c.2168-7G>A (n.2168-7G>A)
c.2087-7G>A (n.2087-7G>A)
c.2063-7G>A (n.2063-7G>A)
c.1970-7G>A (n.1970-7G>A)
c.1196-7G>A (n.1196-7G>A)
c.1109-7G>A (n.1109-7G>A)
c.1022-7G>A (n.1022-7G>A)
c.771+4333G>A (n.771+4333G>A)
n.829-7G>A
 gnomAD v4
17g.46018613dupCA2638367814MAPTc.911-5dup (n.911-5dup)
c.824-5dup (n.824-5dup)
c.998-5dup (n.998-5dup)
n.769-5dup
n.224-5dup
n.182-5dup
n.411dup
c.2174-5dup (n.2174-5dup)
c.1883-5dup (n.1883-5dup)
c.818-5dup (n.818-5dup)
c.947-5dup (n.947-5dup)
c.1949-5dup (n.1949-5dup)
c.731-5dup (n.731-5dup)
c.2003-5dup (n.2003-5dup)
c.905-5dup (n.905-5dup)
n.777-5dup
n.6190-5dup
c.2261-5dup (n.2261-5dup)
c.2168-5dup (n.2168-5dup)
c.2087-5dup (n.2087-5dup)
c.2063-5dup (n.2063-5dup)
c.1970-5dup (n.1970-5dup)
c.1196-5dup (n.1196-5dup)
c.1109-5dup (n.1109-5dup)
c.1022-5dup (n.1022-5dup)
c.771+4335dup (n.771+4335dup)
n.829-5dup
 gnomAD v4
17g.46018613T>ACA2580093979MAPTc.911-5T>A (n.911-5T>A)
c.824-5T>A (n.824-5T>A)
c.998-5T>A (n.998-5T>A)
n.769-5T>A
n.224-5T>A
n.182-5T>A
n.411T>A
c.2174-5T>A (n.2174-5T>A)
c.1883-5T>A (n.1883-5T>A)
c.818-5T>A (n.818-5T>A)
c.947-5T>A (n.947-5T>A)
c.1949-5T>A (n.1949-5T>A)
c.731-5T>A (n.731-5T>A)
c.2003-5T>A (n.2003-5T>A)
c.905-5T>A (n.905-5T>A)
n.777-5T>A
n.6190-5T>A
c.2261-5T>A (n.2261-5T>A)
c.2168-5T>A (n.2168-5T>A)
c.2087-5T>A (n.2087-5T>A)
c.2063-5T>A (n.2063-5T>A)
c.1970-5T>A (n.1970-5T>A)
c.1196-5T>A (n.1196-5T>A)
c.1109-5T>A (n.1109-5T>A)
c.1022-5T>A (n.1022-5T>A)
c.771+4335T>A (n.771+4335T>A)
n.829-5T>A
 ClinVar
17g.46018614C>ACA2638367815MAPTc.911-4C>A (n.911-4C>A)
c.824-4C>A (n.824-4C>A)
c.998-4C>A (n.998-4C>A)
n.769-4C>A
n.224-4C>A
n.182-4C>A
n.412C>A
c.2174-4C>A (n.2174-4C>A)
c.1883-4C>A (n.1883-4C>A)
c.818-4C>A (n.818-4C>A)
c.947-4C>A (n.947-4C>A)
c.1949-4C>A (n.1949-4C>A)
c.731-4C>A (n.731-4C>A)
c.2003-4C>A (n.2003-4C>A)
c.905-4C>A (n.905-4C>A)
n.777-4C>A
n.6190-4C>A
c.2261-4C>A (n.2261-4C>A)
c.2168-4C>A (n.2168-4C>A)
c.2087-4C>A (n.2087-4C>A)
c.2063-4C>A (n.2063-4C>A)
c.1970-4C>A (n.1970-4C>A)
c.1196-4C>A (n.1196-4C>A)
c.1109-4C>A (n.1109-4C>A)
c.1022-4C>A (n.1022-4C>A)
c.771+4336C>A (n.771+4336C>A)
n.829-4C>A
 gnomAD v4
17g.46018614C>TCA2638367816MAPTc.911-4C>T (n.911-4C>T)
c.824-4C>T (n.824-4C>T)
c.998-4C>T (n.998-4C>T)
n.769-4C>T
n.224-4C>T
n.182-4C>T
n.412C>T
c.2174-4C>T (n.2174-4C>T)
c.1883-4C>T (n.1883-4C>T)
c.818-4C>T (n.818-4C>T)
c.947-4C>T (n.947-4C>T)
c.1949-4C>T (n.1949-4C>T)
c.731-4C>T (n.731-4C>T)
c.2003-4C>T (n.2003-4C>T)
c.905-4C>T (n.905-4C>T)
n.777-4C>T
n.6190-4C>T
c.2261-4C>T (n.2261-4C>T)
c.2168-4C>T (n.2168-4C>T)
c.2087-4C>T (n.2087-4C>T)
c.2063-4C>T (n.2063-4C>T)
c.1970-4C>T (n.1970-4C>T)
c.1196-4C>T (n.1196-4C>T)
c.1109-4C>T (n.1109-4C>T)
c.1022-4C>T (n.1022-4C>T)
c.771+4336C>T (n.771+4336C>T)
n.829-4C>T
 gnomAD v4
17g.46018615T>CCA2638367818MAPTc.911-3T>C (n.911-3T>C)
c.824-3T>C (n.824-3T>C)
c.998-3T>C (n.998-3T>C)
n.769-3T>C
n.224-3T>C
n.182-3T>C
n.413T>C
c.2174-3T>C (n.2174-3T>C)
c.1883-3T>C (n.1883-3T>C)
c.818-3T>C (n.818-3T>C)
c.947-3T>C (n.947-3T>C)
c.1949-3T>C (n.1949-3T>C)
c.731-3T>C (n.731-3T>C)
c.2003-3T>C (n.2003-3T>C)
c.905-3T>C (n.905-3T>C)
n.777-3T>C
n.6190-3T>C
c.2261-3T>C (n.2261-3T>C)
c.2168-3T>C (n.2168-3T>C)
c.2087-3T>C (n.2087-3T>C)
c.2063-3T>C (n.2063-3T>C)
c.1970-3T>C (n.1970-3T>C)
c.1196-3T>C (n.1196-3T>C)
c.1109-3T>C (n.1109-3T>C)
c.1022-3T>C (n.1022-3T>C)
c.771+4337T>C (n.771+4337T>C)
n.829-3T>C
 gnomAD v4
17g.46018616A>CCA399983612MAPTc.911-2A>C (n.911-2A>C)
c.824-2A>C (n.824-2A>C)
c.998-2A>C (n.998-2A>C)
n.769-2A>C
n.224-2A>C
n.182-2A>C
n.414A>C
c.2174-2A>C (n.2174-2A>C)
c.1883-2A>C (n.1883-2A>C)
c.818-2A>C (n.818-2A>C)
c.947-2A>C (n.947-2A>C)
c.1949-2A>C (n.1949-2A>C)
c.731-2A>C (n.731-2A>C)
c.2003-2A>C (n.2003-2A>C)
c.905-2A>C (n.905-2A>C)
n.777-2A>C
n.6190-2A>C
c.2261-2A>C (n.2261-2A>C)
c.2168-2A>C (n.2168-2A>C)
c.2087-2A>C (n.2087-2A>C)
c.2063-2A>C (n.2063-2A>C)
c.1970-2A>C (n.1970-2A>C)
c.1196-2A>C (n.1196-2A>C)
c.1109-2A>C (n.1109-2A>C)
c.1022-2A>C (n.1022-2A>C)
c.771+4338A>C (n.771+4338A>C)
n.829-2A>C
17g.46018616A>GCA399983610MAPTc.911-2A>G (n.911-2A>G)
c.824-2A>G (n.824-2A>G)
c.998-2A>G (n.998-2A>G)
n.769-2A>G
n.224-2A>G
n.182-2A>G
n.414A>G
c.2174-2A>G (n.2174-2A>G)
c.1883-2A>G (n.1883-2A>G)
c.818-2A>G (n.818-2A>G)
c.947-2A>G (n.947-2A>G)
c.1949-2A>G (n.1949-2A>G)
c.731-2A>G (n.731-2A>G)
c.2003-2A>G (n.2003-2A>G)
c.905-2A>G (n.905-2A>G)
n.777-2A>G
n.6190-2A>G
c.2261-2A>G (n.2261-2A>G)
c.2168-2A>G (n.2168-2A>G)
c.2087-2A>G (n.2087-2A>G)
c.2063-2A>G (n.2063-2A>G)
c.1970-2A>G (n.1970-2A>G)
c.1196-2A>G (n.1196-2A>G)
c.1109-2A>G (n.1109-2A>G)
c.1022-2A>G (n.1022-2A>G)
c.771+4338A>G (n.771+4338A>G)
n.829-2A>G
17g.46018616A>TCA399983611MAPTc.911-2A>T (n.911-2A>T)
c.824-2A>T (n.824-2A>T)
c.998-2A>T (n.998-2A>T)
n.769-2A>T
n.224-2A>T
n.182-2A>T
n.414A>T
c.2174-2A>T (n.2174-2A>T)
c.1883-2A>T (n.1883-2A>T)
c.818-2A>T (n.818-2A>T)
c.947-2A>T (n.947-2A>T)
c.1949-2A>T (n.1949-2A>T)
c.731-2A>T (n.731-2A>T)
c.2003-2A>T (n.2003-2A>T)
c.905-2A>T (n.905-2A>T)
n.777-2A>T
n.6190-2A>T
c.2261-2A>T (n.2261-2A>T)
c.2168-2A>T (n.2168-2A>T)
c.2087-2A>T (n.2087-2A>T)
c.2063-2A>T (n.2063-2A>T)
c.1970-2A>T (n.1970-2A>T)
c.1196-2A>T (n.1196-2A>T)
c.1109-2A>T (n.1109-2A>T)
c.1022-2A>T (n.1022-2A>T)
c.771+4338A>T (n.771+4338A>T)
n.829-2A>T
17g.46018617G>ACA399983613MAPTc.911-1G>A (n.911-1G>A)
c.824-1G>A (n.824-1G>A)
c.998-1G>A (n.998-1G>A)
n.769-1G>A
n.224-1G>A
n.182-1G>A
n.415G>A
c.2174-1G>A (n.2174-1G>A)
c.1883-1G>A (n.1883-1G>A)
c.818-1G>A (n.818-1G>A)
c.947-1G>A (n.947-1G>A)
c.1949-1G>A (n.1949-1G>A)
c.731-1G>A (n.731-1G>A)
c.2003-1G>A (n.2003-1G>A)
c.905-1G>A (n.905-1G>A)
n.777-1G>A
n.6190-1G>A
c.2261-1G>A (n.2261-1G>A)
c.2168-1G>A (n.2168-1G>A)
c.2087-1G>A (n.2087-1G>A)
c.2063-1G>A (n.2063-1G>A)
c.1970-1G>A (n.1970-1G>A)
c.1196-1G>A (n.1196-1G>A)
c.1109-1G>A (n.1109-1G>A)
c.1022-1G>A (n.1022-1G>A)
c.771+4339G>A (n.771+4339G>A)
n.829-1G>A
17g.46018617G>CCA399983614MAPTc.911-1G>C (n.911-1G>C)
c.824-1G>C (n.824-1G>C)
c.998-1G>C (n.998-1G>C)
n.769-1G>C
n.224-1G>C
n.182-1G>C
n.415G>C
c.2174-1G>C (n.2174-1G>C)
c.1883-1G>C (n.1883-1G>C)
c.818-1G>C (n.818-1G>C)
c.947-1G>C (n.947-1G>C)
c.1949-1G>C (n.1949-1G>C)
c.731-1G>C (n.731-1G>C)
c.2003-1G>C (n.2003-1G>C)
c.905-1G>C (n.905-1G>C)
n.777-1G>C
n.6190-1G>C
c.2261-1G>C (n.2261-1G>C)
c.2168-1G>C (n.2168-1G>C)
c.2087-1G>C (n.2087-1G>C)
c.2063-1G>C (n.2063-1G>C)
c.1970-1G>C (n.1970-1G>C)
c.1196-1G>C (n.1196-1G>C)
c.1109-1G>C (n.1109-1G>C)
c.1022-1G>C (n.1022-1G>C)
c.771+4339G>C (n.771+4339G>C)
n.829-1G>C
 gnomAD v4
17g.46018617G>TCA399983615MAPTc.911-1G>T (n.911-1G>T)
c.824-1G>T (n.824-1G>T)
c.998-1G>T (n.998-1G>T)
n.769-1G>T
n.224-1G>T
n.182-1G>T
n.415G>T
c.2174-1G>T (n.2174-1G>T)
c.1883-1G>T (n.1883-1G>T)
c.818-1G>T (n.818-1G>T)
c.947-1G>T (n.947-1G>T)
c.1949-1G>T (n.1949-1G>T)
c.731-1G>T (n.731-1G>T)
c.2003-1G>T (n.2003-1G>T)
c.905-1G>T (n.905-1G>T)
n.777-1G>T
n.6190-1G>T
c.2261-1G>T (n.2261-1G>T)
c.2168-1G>T (n.2168-1G>T)
c.2087-1G>T (n.2087-1G>T)
c.2063-1G>T (n.2063-1G>T)
c.1970-1G>T (n.1970-1G>T)
c.1196-1G>T (n.1196-1G>T)
c.1109-1G>T (n.1109-1G>T)
c.1022-1G>T (n.1022-1G>T)
c.771+4339G>T (n.771+4339G>T)
n.829-1G>T
17g.46018618G>ACA399983616MAPTc.911G>A (p.Gly304Glu)
c.824G>A (p.Gly275Glu)
c.998G>A (p.Gly333Glu)
n.769G>A
n.224G>A
n.182G>A
n.416G>A
c.2174G>A (p.Gly725Glu)
c.1883G>A (p.Gly628Glu)
c.818G>A (p.Gly273Glu)
c.947G>A (p.Gly316Glu)
c.1949G>A (p.Gly650Glu)
c.731G>A (p.Gly244Glu)
c.2003G>A (p.Gly668Glu)
c.905G>A (p.Gly302Glu)
n.777G>A
n.6190G>A
c.2261G>A (p.Gly754Glu)
c.2168G>A (p.Gly723Glu)
c.2087G>A (p.Gly696Glu)
c.2063G>A (p.Gly688Glu)
c.1970G>A (p.Gly657Glu)
c.1196G>A (p.Gly399Glu)
c.1109G>A (p.Gly370Glu)
c.1022G>A (p.Gly341Glu)
c.771+4340G>A (n.771+4340G>A)
n.829G>A
17g.46018618G>CCA399983617MAPTc.911G>C (p.Gly304Ala)
c.824G>C (p.Gly275Ala)
c.998G>C (p.Gly333Ala)
n.769G>C
n.224G>C
n.182G>C
n.416G>C
c.2174G>C (p.Gly725Ala)
c.1883G>C (p.Gly628Ala)
c.818G>C (p.Gly273Ala)
c.947G>C (p.Gly316Ala)
c.1949G>C (p.Gly650Ala)
c.731G>C (p.Gly244Ala)
c.2003G>C (p.Gly668Ala)
c.905G>C (p.Gly302Ala)
n.777G>C
n.6190G>C
c.2261G>C (p.Gly754Ala)
c.2168G>C (p.Gly723Ala)
c.2087G>C (p.Gly696Ala)
c.2063G>C (p.Gly688Ala)
c.1970G>C (p.Gly657Ala)
c.1196G>C (p.Gly399Ala)
c.1109G>C (p.Gly370Ala)
c.1022G>C (p.Gly341Ala)
c.771+4340G>C (n.771+4340G>C)
n.829G>C
17g.46018618G>TCA399983618MAPTc.911G>T (p.Gly304Val)
c.824G>T (p.Gly275Val)
c.998G>T (p.Gly333Val)
n.769G>T
n.224G>T
n.182G>T
n.416G>T
c.2174G>T (p.Gly725Val)
c.1883G>T (p.Gly628Val)
c.818G>T (p.Gly273Val)
c.947G>T (p.Gly316Val)
c.1949G>T (p.Gly650Val)
c.731G>T (p.Gly244Val)
c.2003G>T (p.Gly668Val)
c.905G>T (p.Gly302Val)
n.777G>T
n.6190G>T
c.2261G>T (p.Gly754Val)
c.2168G>T (p.Gly723Val)
c.2087G>T (p.Gly696Val)
c.2063G>T (p.Gly688Val)
c.1970G>T (p.Gly657Val)
c.1196G>T (p.Gly399Val)
c.1109G>T (p.Gly370Val)
c.1022G>T (p.Gly341Val)
c.771+4340G>T (n.771+4340G>T)
n.829G>T
 COSMIC
17g.46018619A>CCA500371222MAPTc.912A>C (p.Gly304=)
c.825A>C (p.Gly275=)
c.999A>C (p.Gly333=)
n.770A>C
n.225A>C
n.183A>C
n.417A>C
c.2175A>C (p.Gly725=)
c.1884A>C (p.Gly628=)
c.819A>C (p.Gly273=)
c.948A>C (p.Gly316=)
c.1950A>C (p.Gly650=)
c.732A>C (p.Gly244=)
c.2004A>C (p.Gly668=)
c.906A>C (p.Gly302=)
n.778A>C
n.6191A>C
c.2262A>C (p.Gly754=)
c.2169A>C (p.Gly723=)
c.2088A>C (p.Gly696=)
c.2064A>C (p.Gly688=)
c.1971A>C (p.Gly657=)
c.1197A>C (p.Gly399=)
c.1110A>C (p.Gly370=)
c.1023A>C (p.Gly341=)
c.771+4341A>C (n.771+4341A>C)
n.830A>C
17g.46018619A>GCA500371223MAPTc.912A>G (p.Gly304=)
c.825A>G (p.Gly275=)
c.999A>G (p.Gly333=)
n.770A>G
n.225A>G
n.183A>G
n.417A>G
c.2175A>G (p.Gly725=)
c.1884A>G (p.Gly628=)
c.819A>G (p.Gly273=)
c.948A>G (p.Gly316=)
c.1950A>G (p.Gly650=)
c.732A>G (p.Gly244=)
c.2004A>G (p.Gly668=)
c.906A>G (p.Gly302=)
n.778A>G
n.6191A>G
c.2262A>G (p.Gly754=)
c.2169A>G (p.Gly723=)
c.2088A>G (p.Gly696=)
c.2064A>G (p.Gly688=)
c.1971A>G (p.Gly657=)
c.1197A>G (p.Gly399=)
c.1110A>G (p.Gly370=)
c.1023A>G (p.Gly341=)
c.771+4341A>G (n.771+4341A>G)
n.830A>G
17g.46018619A>TCA500371221MAPTc.912A>T (p.Gly304=)
c.825A>T (p.Gly275=)
c.999A>T (p.Gly333=)
n.770A>T
n.225A>T
n.183A>T
n.417A>T
c.2175A>T (p.Gly725=)
c.1884A>T (p.Gly628=)
c.819A>T (p.Gly273=)
c.948A>T (p.Gly316=)
c.1950A>T (p.Gly650=)
c.732A>T (p.Gly244=)
c.2004A>T (p.Gly668=)
c.906A>T (p.Gly302=)
n.778A>T
n.6191A>T
c.2262A>T (p.Gly754=)
c.2169A>T (p.Gly723=)
c.2088A>T (p.Gly696=)
c.2064A>T (p.Gly688=)
c.1971A>T (p.Gly657=)
c.1197A>T (p.Gly399=)
c.1110A>T (p.Gly370=)
c.1023A>T (p.Gly341=)
c.771+4341A>T (n.771+4341A>T)
n.830A>T
17g.46018620G>ACA399983619MAPTc.913G>A (p.Gly305Ser)
c.826G>A (p.Gly276Ser)
c.1000G>A (p.Gly334Ser)
n.771G>A
n.226G>A
n.184G>A
n.418G>A
c.2176G>A (p.Gly726Ser)
c.1885G>A (p.Gly629Ser)
c.820G>A (p.Gly274Ser)
c.949G>A (p.Gly317Ser)
c.1951G>A (p.Gly651Ser)
c.733G>A (p.Gly245Ser)
c.2005G>A (p.Gly669Ser)
c.907G>A (p.Gly303Ser)
n.779G>A
n.6192G>A
c.2263G>A (p.Gly755Ser)
c.2170G>A (p.Gly724Ser)
c.2089G>A (p.Gly697Ser)
c.2065G>A (p.Gly689Ser)
c.1972G>A (p.Gly658Ser)
c.1198G>A (p.Gly400Ser)
c.1111G>A (p.Gly371Ser)
c.1024G>A (p.Gly342Ser)
c.771+4342G>A (n.771+4342G>A)
n.831G>A
17g.46018620G>CCA399983620MAPTc.913G>C (p.Gly305Arg)
c.826G>C (p.Gly276Arg)
c.1000G>C (p.Gly334Arg)
n.771G>C
n.226G>C
n.184G>C
n.418G>C
c.2176G>C (p.Gly726Arg)
c.1885G>C (p.Gly629Arg)
c.820G>C (p.Gly274Arg)
c.949G>C (p.Gly317Arg)
c.1951G>C (p.Gly651Arg)
c.733G>C (p.Gly245Arg)
c.2005G>C (p.Gly669Arg)
c.907G>C (p.Gly303Arg)
n.779G>C
n.6192G>C
c.2263G>C (p.Gly755Arg)
c.2170G>C (p.Gly724Arg)
c.2089G>C (p.Gly697Arg)
c.2065G>C (p.Gly689Arg)
c.1972G>C (p.Gly658Arg)
c.1198G>C (p.Gly400Arg)
c.1111G>C (p.Gly371Arg)
c.1024G>C (p.Gly342Arg)
c.771+4342G>C (n.771+4342G>C)
n.831G>C
17g.46018620G>TCA399983621MAPTc.913G>T (p.Gly305Cys)
c.826G>T (p.Gly276Cys)
c.1000G>T (p.Gly334Cys)
n.771G>T
n.226G>T
n.184G>T
n.418G>T
c.2176G>T (p.Gly726Cys)
c.1885G>T (p.Gly629Cys)
c.820G>T (p.Gly274Cys)
c.949G>T (p.Gly317Cys)
c.1951G>T (p.Gly651Cys)
c.733G>T (p.Gly245Cys)
c.2005G>T (p.Gly669Cys)
c.907G>T (p.Gly303Cys)
n.779G>T
n.6192G>T
c.2263G>T (p.Gly755Cys)
c.2170G>T (p.Gly724Cys)
c.2089G>T (p.Gly697Cys)
c.2065G>T (p.Gly689Cys)
c.1972G>T (p.Gly658Cys)
c.1198G>T (p.Gly400Cys)
c.1111G>T (p.Gly371Cys)
c.1024G>T (p.Gly342Cys)
c.771+4342G>T (n.771+4342G>T)
n.831G>T
17g.46018621G>ACA399983622MAPTc.914G>A (p.Gly305Asp)
c.827G>A (p.Gly276Asp)
c.1001G>A (p.Gly334Asp)
n.772G>A
n.227G>A
n.185G>A
n.419G>A
c.2177G>A (p.Gly726Asp)
c.1886G>A (p.Gly629Asp)
c.821G>A (p.Gly274Asp)
c.950G>A (p.Gly317Asp)
c.1952G>A (p.Gly651Asp)
c.734G>A (p.Gly245Asp)
c.2006G>A (p.Gly669Asp)
c.908G>A (p.Gly303Asp)
n.780G>A
n.6193G>A
c.2264G>A (p.Gly755Asp)
c.2171G>A (p.Gly724Asp)
c.2090G>A (p.Gly697Asp)
c.2066G>A (p.Gly689Asp)
c.1973G>A (p.Gly658Asp)
c.1199G>A (p.Gly400Asp)
c.1112G>A (p.Gly371Asp)
c.1025G>A (p.Gly342Asp)
c.771+4343G>A (n.771+4343G>A)
n.832G>A
 gnomAD v4
17g.46018621G>CCA399983623MAPTc.914G>C (p.Gly305Ala)
c.827G>C (p.Gly276Ala)
c.1001G>C (p.Gly334Ala)
n.772G>C
n.227G>C
n.185G>C
n.419G>C
c.2177G>C (p.Gly726Ala)
c.1886G>C (p.Gly629Ala)
c.821G>C (p.Gly274Ala)
c.950G>C (p.Gly317Ala)
c.1952G>C (p.Gly651Ala)
c.734G>C (p.Gly245Ala)
c.2006G>C (p.Gly669Ala)
c.908G>C (p.Gly303Ala)
n.780G>C
n.6193G>C
c.2264G>C (p.Gly755Ala)
c.2171G>C (p.Gly724Ala)
c.2090G>C (p.Gly697Ala)
c.2066G>C (p.Gly689Ala)
c.1973G>C (p.Gly658Ala)
c.1199G>C (p.Gly400Ala)
c.1112G>C (p.Gly371Ala)
c.1025G>C (p.Gly342Ala)
c.771+4343G>C (n.771+4343G>C)
n.832G>C
17g.46018621G>TCA399983624MAPTc.914G>T (p.Gly305Val)
c.827G>T (p.Gly276Val)
c.1001G>T (p.Gly334Val)
n.772G>T
n.227G>T
n.185G>T
n.419G>T
c.2177G>T (p.Gly726Val)
c.1886G>T (p.Gly629Val)
c.821G>T (p.Gly274Val)
c.950G>T (p.Gly317Val)
c.1952G>T (p.Gly651Val)
c.734G>T (p.Gly245Val)
c.2006G>T (p.Gly669Val)
c.908G>T (p.Gly303Val)
n.780G>T
n.6193G>T
c.2264G>T (p.Gly755Val)
c.2171G>T (p.Gly724Val)
c.2090G>T (p.Gly697Val)
c.2066G>T (p.Gly689Val)
c.1973G>T (p.Gly658Val)
c.1199G>T (p.Gly400Val)
c.1112G>T (p.Gly371Val)
c.1025G>T (p.Gly342Val)
c.771+4343G>T (n.771+4343G>T)
n.832G>T
17g.46018622T>ACA500371224MAPTc.915T>A (p.Gly305=)
c.828T>A (p.Gly276=)
c.1002T>A (p.Gly334=)
n.773T>A
n.228T>A
n.186T>A
n.420T>A
c.2178T>A (p.Gly726=)
c.1887T>A (p.Gly629=)
c.822T>A (p.Gly274=)
c.951T>A (p.Gly317=)
c.1953T>A (p.Gly651=)
c.735T>A (p.Gly245=)
c.2007T>A (p.Gly669=)
c.909T>A (p.Gly303=)
n.781T>A
n.6194T>A
c.2265T>A (p.Gly755=)
c.2172T>A (p.Gly724=)
c.2091T>A (p.Gly697=)
c.2067T>A (p.Gly689=)
c.1974T>A (p.Gly658=)
c.1200T>A (p.Gly400=)
c.1113T>A (p.Gly371=)
c.1026T>A (p.Gly342=)
c.771+4344T>A (n.771+4344T>A)
n.833T>A
17g.46018622T>CCA500371225MAPTc.915T>C (p.Gly305=)
c.828T>C (p.Gly276=)
c.1002T>C (p.Gly334=)
n.773T>C
n.228T>C
n.186T>C
n.420T>C
c.2178T>C (p.Gly726=)
c.1887T>C (p.Gly629=)
c.822T>C (p.Gly274=)
c.951T>C (p.Gly317=)
c.1953T>C (p.Gly651=)
c.735T>C (p.Gly245=)
c.2007T>C (p.Gly669=)
c.909T>C (p.Gly303=)
n.781T>C
n.6194T>C
c.2265T>C (p.Gly755=)
c.2172T>C (p.Gly724=)
c.2091T>C (p.Gly697=)
c.2067T>C (p.Gly689=)
c.1974T>C (p.Gly658=)
c.1200T>C (p.Gly400=)
c.1113T>C (p.Gly371=)
c.1026T>C (p.Gly342=)
c.771+4344T>C (n.771+4344T>C)
n.833T>C
17g.46018622T>GCA500371226MAPTc.915T>G (p.Gly305=)
c.828T>G (p.Gly276=)
c.1002T>G (p.Gly334=)
n.773T>G
n.228T>G
n.186T>G
n.420T>G
c.2178T>G (p.Gly726=)
c.1887T>G (p.Gly629=)
c.822T>G (p.Gly274=)
c.951T>G (p.Gly317=)
c.1953T>G (p.Gly651=)
c.735T>G (p.Gly245=)
c.2007T>G (p.Gly669=)
c.909T>G (p.Gly303=)
n.781T>G
n.6194T>G
c.2265T>G (p.Gly755=)
c.2172T>G (p.Gly724=)
c.2091T>G (p.Gly697=)
c.2067T>G (p.Gly689=)
c.1974T>G (p.Gly658=)
c.1200T>G (p.Gly400=)
c.1113T>G (p.Gly371=)
c.1026T>G (p.Gly342=)
c.771+4344T>G (n.771+4344T>G)
n.833T>G
17g.46018623G>ACA225477MAPTc.916G>A (p.Gly306Ser)
c.829G>A (p.Gly277Ser)
c.1003G>A (p.Gly335Ser)
n.774G>A
n.229G>A
n.187G>A
n.421G>A
c.2179G>A (p.Gly727Ser)
c.1888G>A (p.Gly630Ser)
c.823G>A (p.Gly275Ser)
c.952G>A (p.Gly318Ser)
c.1954G>A (p.Gly652Ser)
c.736G>A (p.Gly246Ser)
c.2008G>A (p.Gly670Ser)
c.910G>A (p.Gly304Ser)
n.782G>A
n.6195G>A
c.2266G>A (p.Gly756Ser)
c.2173G>A (p.Gly725Ser)
c.2092G>A (p.Gly698Ser)
c.2068G>A (p.Gly690Ser)
c.1975G>A (p.Gly659Ser)
c.1201G>A (p.Gly401Ser)
c.1114G>A (p.Gly372Ser)
c.1027G>A (p.Gly343Ser)
c.771+4345G>A (n.771+4345G>A)
n.834G>A
 ClinVar dbSNP
17g.46018623G>CCA399983626MAPTc.916G>C (p.Gly306Arg)
c.829G>C (p.Gly277Arg)
c.1003G>C (p.Gly335Arg)
n.774G>C
n.229G>C
n.187G>C
n.421G>C
c.2179G>C (p.Gly727Arg)
c.1888G>C (p.Gly630Arg)
c.823G>C (p.Gly275Arg)
c.952G>C (p.Gly318Arg)
c.1954G>C (p.Gly652Arg)
c.736G>C (p.Gly246Arg)
c.2008G>C (p.Gly670Arg)
c.910G>C (p.Gly304Arg)
n.782G>C
n.6195G>C
c.2266G>C (p.Gly756Arg)
c.2173G>C (p.Gly725Arg)
c.2092G>C (p.Gly698Arg)
c.2068G>C (p.Gly690Arg)
c.1975G>C (p.Gly659Arg)
c.1201G>C (p.Gly401Arg)
c.1114G>C (p.Gly372Arg)
c.1027G>C (p.Gly343Arg)
c.771+4345G>C (n.771+4345G>C)
n.834G>C
17g.46018623G=CA2262104722MAPTc.916G= (p.Gly306=)
c.829G= (p.Gly277=)
c.1003G= (p.Gly335=)
n.774G=
n.229G=
n.187G=
n.421G=
c.2179G= (p.Gly727=)
c.1888G= (p.Gly630=)
c.823G= (p.Gly275=)
c.952G= (p.Gly318=)
c.1954G= (p.Gly652=)
c.736G= (p.Gly246=)
c.2008G= (p.Gly670=)
c.910G= (p.Gly304=)
n.782G=
n.6195G=
c.2266G= (p.Gly756=)
c.2173G= (p.Gly725=)
c.2092G= (p.Gly698=)
c.2068G= (p.Gly690=)
c.1975G= (p.Gly659=)
c.1201G= (p.Gly401=)
c.1114G= (p.Gly372=)
c.1027G= (p.Gly343=)
c.771+4345G= (n.771+4345G=)
n.834G=
17g.46018623G>TCA399983625MAPTc.916G>T (p.Gly306Cys)
c.829G>T (p.Gly277Cys)
c.1003G>T (p.Gly335Cys)
n.774G>T
n.229G>T
n.187G>T
n.421G>T
c.2179G>T (p.Gly727Cys)
c.1888G>T (p.Gly630Cys)
c.823G>T (p.Gly275Cys)
c.952G>T (p.Gly318Cys)
c.1954G>T (p.Gly652Cys)
c.736G>T (p.Gly246Cys)
c.2008G>T (p.Gly670Cys)
c.910G>T (p.Gly304Cys)
n.782G>T
n.6195G>T
c.2266G>T (p.Gly756Cys)
c.2173G>T (p.Gly725Cys)
c.2092G>T (p.Gly698Cys)
c.2068G>T (p.Gly690Cys)
c.1975G>T (p.Gly659Cys)
c.1201G>T (p.Gly401Cys)
c.1114G>T (p.Gly372Cys)
c.1027G>T (p.Gly343Cys)
c.771+4345G>T (n.771+4345G>T)
n.834G>T
17g.46018624G>ACA399983628MAPTc.917G>A (p.Gly306Asp)
c.830G>A (p.Gly277Asp)
c.1004G>A (p.Gly335Asp)
n.775G>A
n.230G>A
n.188G>A
n.422G>A
c.2180G>A (p.Gly727Asp)
c.1889G>A (p.Gly630Asp)
c.824G>A (p.Gly275Asp)
c.953G>A (p.Gly318Asp)
c.1955G>A (p.Gly652Asp)
c.737G>A (p.Gly246Asp)
c.2009G>A (p.Gly670Asp)
c.911G>A (p.Gly304Asp)
n.783G>A
n.6196G>A
c.2267G>A (p.Gly756Asp)
c.2174G>A (p.Gly725Asp)
c.2093G>A (p.Gly698Asp)
c.2069G>A (p.Gly690Asp)
c.1976G>A (p.Gly659Asp)
c.1202G>A (p.Gly401Asp)
c.1115G>A (p.Gly372Asp)
c.1028G>A (p.Gly343Asp)
c.771+4346G>A (n.771+4346G>A)
n.835G>A
17g.46018624G>CCA399983627MAPTc.917G>C (p.Gly306Ala)
c.830G>C (p.Gly277Ala)
c.1004G>C (p.Gly335Ala)
n.775G>C
n.230G>C
n.188G>C
n.422G>C
c.2180G>C (p.Gly727Ala)
c.1889G>C (p.Gly630Ala)
c.824G>C (p.Gly275Ala)
c.953G>C (p.Gly318Ala)
c.1955G>C (p.Gly652Ala)
c.737G>C (p.Gly246Ala)
c.2009G>C (p.Gly670Ala)
c.911G>C (p.Gly304Ala)
n.783G>C
n.6196G>C
c.2267G>C (p.Gly756Ala)
c.2174G>C (p.Gly725Ala)
c.2093G>C (p.Gly698Ala)
c.2069G>C (p.Gly690Ala)
c.1976G>C (p.Gly659Ala)
c.1202G>C (p.Gly401Ala)
c.1115G>C (p.Gly372Ala)
c.1028G>C (p.Gly343Ala)
c.771+4346G>C (n.771+4346G>C)
n.835G>C
17g.46018624G=CA2262104723MAPTc.917G= (p.Gly306=)
c.830G= (p.Gly277=)
c.1004G= (p.Gly335=)
n.775G=
n.230G=
n.188G=
n.422G=
c.2180G= (p.Gly727=)
c.1889G= (p.Gly630=)
c.824G= (p.Gly275=)
c.953G= (p.Gly318=)
c.1955G= (p.Gly652=)
c.737G= (p.Gly246=)
c.2009G= (p.Gly670=)
c.911G= (p.Gly304=)
n.783G=
n.6196G=
c.2267G= (p.Gly756=)
c.2174G= (p.Gly725=)
c.2093G= (p.Gly698=)
c.2069G= (p.Gly690=)
c.1976G= (p.Gly659=)
c.1202G= (p.Gly401=)
c.1115G= (p.Gly372=)
c.1028G= (p.Gly343=)
c.771+4346G= (n.771+4346G=)
n.835G=
17g.46018624G>TCA225479MAPTc.917G>T (p.Gly306Val)
c.830G>T (p.Gly277Val)
c.1004G>T (p.Gly335Val)
n.775G>T
n.230G>T
n.188G>T
n.422G>T
c.2180G>T (p.Gly727Val)
c.1889G>T (p.Gly630Val)
c.824G>T (p.Gly275Val)
c.953G>T (p.Gly318Val)
c.1955G>T (p.Gly652Val)
c.737G>T (p.Gly246Val)
c.2009G>T (p.Gly670Val)
c.911G>T (p.Gly304Val)
n.783G>T
n.6196G>T
c.2267G>T (p.Gly756Val)
c.2174G>T (p.Gly725Val)
c.2093G>T (p.Gly698Val)
c.2069G>T (p.Gly690Val)
c.1976G>T (p.Gly659Val)
c.1202G>T (p.Gly401Val)
c.1115G>T (p.Gly372Val)
c.1028G>T (p.Gly343Val)
c.771+4346G>T (n.771+4346G>T)
n.835G>T
 ClinVar dbSNP
17g.46018625C>ACA500371227MAPTc.918C>A (p.Gly306=)
c.831C>A (p.Gly277=)
c.1005C>A (p.Gly335=)
n.776C>A
n.231C>A
n.189C>A
n.423C>A
c.2181C>A (p.Gly727=)
c.1890C>A (p.Gly630=)
c.825C>A (p.Gly275=)
c.954C>A (p.Gly318=)
c.1956C>A (p.Gly652=)
c.738C>A (p.Gly246=)
c.2010C>A (p.Gly670=)
c.912C>A (p.Gly304=)
n.784C>A
n.6197C>A
c.2268C>A (p.Gly756=)
c.2175C>A (p.Gly725=)
c.2094C>A (p.Gly698=)
c.2070C>A (p.Gly690=)
c.1977C>A (p.Gly659=)
c.1203C>A (p.Gly401=)
c.1116C>A (p.Gly372=)
c.1029C>A (p.Gly343=)
c.771+4347C>A (n.771+4347C>A)
n.836C>A
17g.46018625C=CA2262104724MAPTc.918C= (p.Gly306=)
c.831C= (p.Gly277=)
c.1005C= (p.Gly335=)
n.776C=
n.231C=
n.189C=
n.423C=
c.2181C= (p.Gly727=)
c.1890C= (p.Gly630=)
c.825C= (p.Gly275=)
c.954C= (p.Gly318=)
c.1956C= (p.Gly652=)
c.738C= (p.Gly246=)
c.2010C= (p.Gly670=)
c.912C= (p.Gly304=)
n.784C=
n.6197C=
c.2268C= (p.Gly756=)
c.2175C= (p.Gly725=)
c.2094C= (p.Gly698=)
c.2070C= (p.Gly690=)
c.1977C= (p.Gly659=)
c.1203C= (p.Gly401=)
c.1116C= (p.Gly372=)
c.1029C= (p.Gly343=)
c.771+4347C= (n.771+4347C=)
n.836C=
17g.46018625C>GCA500371229MAPTc.918C>G (p.Gly306=)
c.831C>G (p.Gly277=)
c.1005C>G (p.Gly335=)
n.776C>G
n.231C>G
n.189C>G
n.423C>G
c.2181C>G (p.Gly727=)
c.1890C>G (p.Gly630=)
c.825C>G (p.Gly275=)
c.954C>G (p.Gly318=)
c.1956C>G (p.Gly652=)
c.738C>G (p.Gly246=)
c.2010C>G (p.Gly670=)
c.912C>G (p.Gly304=)
n.784C>G
n.6197C>G
c.2268C>G (p.Gly756=)
c.2175C>G (p.Gly725=)
c.2094C>G (p.Gly698=)
c.2070C>G (p.Gly690=)
c.1977C>G (p.Gly659=)
c.1203C>G (p.Gly401=)
c.1116C>G (p.Gly372=)
c.1029C>G (p.Gly343=)
c.771+4347C>G (n.771+4347C>G)
n.836C>G
17g.46018625C>TCA500371228MAPTc.918C>T (p.Gly306=)
c.831C>T (p.Gly277=)
c.1005C>T (p.Gly335=)
n.776C>T
n.231C>T
n.189C>T
n.423C>T
c.2181C>T (p.Gly727=)
c.1890C>T (p.Gly630=)
c.825C>T (p.Gly275=)
c.954C>T (p.Gly318=)
c.1956C>T (p.Gly652=)
c.738C>T (p.Gly246=)
c.2010C>T (p.Gly670=)
c.912C>T (p.Gly304=)
n.784C>T
n.6197C>T
c.2268C>T (p.Gly756=)
c.2175C>T (p.Gly725=)
c.2094C>T (p.Gly698=)
c.2070C>T (p.Gly690=)
c.1977C>T (p.Gly659=)
c.1203C>T (p.Gly401=)
c.1116C>T (p.Gly372=)
c.1029C>T (p.Gly343=)
c.771+4347C>T (n.771+4347C>T)
n.836C>T
 dbSNP
17g.46018626C>ACA399983629MAPTc.919C>A (p.Gln307Lys)
c.832C>A (p.Gln278Lys)
c.1006C>A (p.Gln336Lys)
n.777C>A
n.232C>A
n.190C>A
n.424C>A
c.2182C>A (p.Gln728Lys)
c.1891C>A (p.Gln631Lys)
c.826C>A (p.Gln276Lys)
c.955C>A (p.Gln319Lys)
c.1957C>A (p.Gln653Lys)
c.739C>A (p.Gln247Lys)
c.2011C>A (p.Gln671Lys)
c.913C>A (p.Gln305Lys)
n.785C>A
n.6198C>A
c.2269C>A (p.Gln757Lys)
c.2176C>A (p.Gln726Lys)
c.2095C>A (p.Gln699Lys)
c.2071C>A (p.Gln691Lys)
c.1978C>A (p.Gln660Lys)
c.1204C>A (p.Gln402Lys)
c.1117C>A (p.Gln373Lys)
c.1030C>A (p.Gln344Lys)
c.771+4348C>A (n.771+4348C>A)
n.837C>A
17g.46018626C>GCA399983630MAPTc.919C>G (p.Gln307Glu)
c.832C>G (p.Gln278Glu)
c.1006C>G (p.Gln336Glu)
n.777C>G
n.232C>G
n.190C>G
n.424C>G
c.2182C>G (p.Gln728Glu)
c.1891C>G (p.Gln631Glu)
c.826C>G (p.Gln276Glu)
c.955C>G (p.Gln319Glu)
c.1957C>G (p.Gln653Glu)
c.739C>G (p.Gln247Glu)
c.2011C>G (p.Gln671Glu)
c.913C>G (p.Gln305Glu)
n.785C>G
n.6198C>G
c.2269C>G (p.Gln757Glu)
c.2176C>G (p.Gln726Glu)
c.2095C>G (p.Gln699Glu)
c.2071C>G (p.Gln691Glu)
c.1978C>G (p.Gln660Glu)
c.1204C>G (p.Gln402Glu)
c.1117C>G (p.Gln373Glu)
c.1030C>G (p.Gln344Glu)
c.771+4348C>G (n.771+4348C>G)
n.837C>G
17g.46018626C>TCA399983631MAPTc.919C>T (p.Gln307Ter)
c.832C>T (p.Gln278Ter)
c.1006C>T (p.Gln336Ter)
n.777C>T
n.232C>T
n.190C>T
n.424C>T
c.2182C>T (p.Gln728Ter)
c.1891C>T (p.Gln631Ter)
c.826C>T (p.Gln276Ter)
c.955C>T (p.Gln319Ter)
c.1957C>T (p.Gln653Ter)
c.739C>T (p.Gln247Ter)
c.2011C>T (p.Gln671Ter)
c.913C>T (p.Gln305Ter)
n.785C>T
n.6198C>T
c.2269C>T (p.Gln757Ter)
c.2176C>T (p.Gln726Ter)
c.2095C>T (p.Gln699Ter)
c.2071C>T (p.Gln691Ter)
c.1978C>T (p.Gln660Ter)
c.1204C>T (p.Gln402Ter)
c.1117C>T (p.Gln373Ter)
c.1030C>T (p.Gln344Ter)
c.771+4348C>T (n.771+4348C>T)
n.837C>T
17g.46018627A=CA2262104725MAPTc.920A= (p.Gln307=)
c.833A= (p.Gln278=)
c.1007A= (p.Gln336=)
n.778A=
n.233A=
n.191A=
n.425A=
c.2183A= (p.Gln728=)
c.1892A= (p.Gln631=)
c.827A= (p.Gln276=)
c.956A= (p.Gln319=)
c.1958A= (p.Gln653=)
c.740A= (p.Gln247=)
c.2012A= (p.Gln671=)
c.914A= (p.Gln305=)
n.786A=
n.6199A=
c.2270A= (p.Gln757=)
c.2177A= (p.Gln726=)
c.2096A= (p.Gln699=)
c.2072A= (p.Gln691=)
c.1979A= (p.Gln660=)
c.1205A= (p.Gln402=)
c.1118A= (p.Gln373=)
c.1031A= (p.Gln344=)
c.771+4349A= (n.771+4349A=)
n.838A=
17g.46018627A>CCA399983632MAPTc.920A>C (p.Gln307Pro)
c.833A>C (p.Gln278Pro)
c.1007A>C (p.Gln336Pro)
n.778A>C
n.233A>C
n.191A>C
n.425A>C
c.2183A>C (p.Gln728Pro)
c.1892A>C (p.Gln631Pro)
c.827A>C (p.Gln276Pro)
c.956A>C (p.Gln319Pro)
c.1958A>C (p.Gln653Pro)
c.740A>C (p.Gln247Pro)
c.2012A>C (p.Gln671Pro)
c.914A>C (p.Gln305Pro)
n.786A>C
n.6199A>C
c.2270A>C (p.Gln757Pro)
c.2177A>C (p.Gln726Pro)
c.2096A>C (p.Gln699Pro)
c.2072A>C (p.Gln691Pro)
c.1979A>C (p.Gln660Pro)
c.1205A>C (p.Gln402Pro)
c.1118A>C (p.Gln373Pro)
c.1031A>C (p.Gln344Pro)
c.771+4349A>C (n.771+4349A>C)
n.838A>C
17g.46018627A>GCA225481MAPTc.920A>G (p.Gln307Arg)
c.833A>G (p.Gln278Arg)
c.1007A>G (p.Gln336Arg)
n.778A>G
n.233A>G
n.191A>G
n.425A>G
c.2183A>G (p.Gln728Arg)
c.1892A>G (p.Gln631Arg)
c.827A>G (p.Gln276Arg)
c.956A>G (p.Gln319Arg)
c.1958A>G (p.Gln653Arg)
c.740A>G (p.Gln247Arg)
c.2012A>G (p.Gln671Arg)
c.914A>G (p.Gln305Arg)
n.786A>G
n.6199A>G
c.2270A>G (p.Gln757Arg)
c.2177A>G (p.Gln726Arg)
c.2096A>G (p.Gln699Arg)
c.2072A>G (p.Gln691Arg)
c.1979A>G (p.Gln660Arg)
c.1205A>G (p.Gln402Arg)
c.1118A>G (p.Gln373Arg)
c.1031A>G (p.Gln344Arg)
c.771+4349A>G (n.771+4349A>G)
n.838A>G
 ClinVar dbSNP gnomAD v4
17g.46018627A>TCA399983633MAPTc.920A>T (p.Gln307Leu)
c.833A>T (p.Gln278Leu)
c.1007A>T (p.Gln336Leu)
n.778A>T
n.233A>T
n.191A>T
n.425A>T
c.2183A>T (p.Gln728Leu)
c.1892A>T (p.Gln631Leu)
c.827A>T (p.Gln276Leu)
c.956A>T (p.Gln319Leu)
c.1958A>T (p.Gln653Leu)
c.740A>T (p.Gln247Leu)
c.2012A>T (p.Gln671Leu)
c.914A>T (p.Gln305Leu)
n.786A>T
n.6199A>T
c.2270A>T (p.Gln757Leu)
c.2177A>T (p.Gln726Leu)
c.2096A>T (p.Gln699Leu)
c.2072A>T (p.Gln691Leu)
c.1979A>T (p.Gln660Leu)
c.1205A>T (p.Gln402Leu)
c.1118A>T (p.Gln373Leu)
c.1031A>T (p.Gln344Leu)
c.771+4349A>T (n.771+4349A>T)
n.838A>T
17g.46018628G>ACA500371231MAPTc.921G>A (p.Gln307=)
c.834G>A (p.Gln278=)
c.1008G>A (p.Gln336=)
n.779G>A
n.234G>A
n.192G>A
n.426G>A
c.2184G>A (p.Gln728=)
c.1893G>A (p.Gln631=)
c.828G>A (p.Gln276=)
c.957G>A (p.Gln319=)
c.1959G>A (p.Gln653=)
c.741G>A (p.Gln247=)
c.2013G>A (p.Gln671=)
c.915G>A (p.Gln305=)
n.787G>A
n.6200G>A
c.2271G>A (p.Gln757=)
c.2178G>A (p.Gln726=)
c.2097G>A (p.Gln699=)
c.2073G>A (p.Gln691=)
c.1980G>A (p.Gln660=)
c.1206G>A (p.Gln402=)
c.1119G>A (p.Gln373=)
c.1032G>A (p.Gln344=)
c.771+4350G>A (n.771+4350G>A)
n.839G>A
17g.46018628G>CCA399983634MAPTc.921G>C (p.Gln307His)
c.834G>C (p.Gln278His)
c.1008G>C (p.Gln336His)
n.779G>C
n.234G>C
n.192G>C
n.426G>C
c.2184G>C (p.Gln728His)
c.1893G>C (p.Gln631His)
c.828G>C (p.Gln276His)
c.957G>C (p.Gln319His)
c.1959G>C (p.Gln653His)
c.741G>C (p.Gln247His)
c.2013G>C (p.Gln671His)
c.915G>C (p.Gln305His)
n.787G>C
n.6200G>C
c.2271G>C (p.Gln757His)
c.2178G>C (p.Gln726His)
c.2097G>C (p.Gln699His)
c.2073G>C (p.Gln691His)
c.1980G>C (p.Gln660His)
c.1206G>C (p.Gln402His)
c.1119G>C (p.Gln373His)
c.1032G>C (p.Gln344His)
c.771+4350G>C (n.771+4350G>C)
n.839G>C
 ClinVar dbSNP gnomAD v4
17g.46018628G=CA2262104726MAPTc.921G= (p.Gln307=)
c.834G= (p.Gln278=)
c.1008G= (p.Gln336=)
n.779G=
n.234G=
n.192G=
n.426G=
c.2184G= (p.Gln728=)
c.1893G= (p.Gln631=)
c.828G= (p.Gln276=)
c.957G= (p.Gln319=)
c.1959G= (p.Gln653=)
c.741G= (p.Gln247=)
c.2013G= (p.Gln671=)
c.915G= (p.Gln305=)
n.787G=
n.6200G=
c.2271G= (p.Gln757=)
c.2178G= (p.Gln726=)
c.2097G= (p.Gln699=)
c.2073G= (p.Gln691=)
c.1980G= (p.Gln660=)
c.1206G= (p.Gln402=)
c.1119G= (p.Gln373=)
c.1032G= (p.Gln344=)
c.771+4350G= (n.771+4350G=)
n.839G=
17g.46018628G>TCA399983635MAPTc.921G>T (p.Gln307His)
c.834G>T (p.Gln278His)
c.1008G>T (p.Gln336His)
n.779G>T
n.234G>T
n.192G>T
n.426G>T
c.2184G>T (p.Gln728His)
c.1893G>T (p.Gln631His)
c.828G>T (p.Gln276His)
c.957G>T (p.Gln319His)
c.1959G>T (p.Gln653His)
c.741G>T (p.Gln247His)
c.2013G>T (p.Gln671His)
c.915G>T (p.Gln305His)
n.787G>T
n.6200G>T
c.2271G>T (p.Gln757His)
c.2178G>T (p.Gln726His)
c.2097G>T (p.Gln699His)
c.2073G>T (p.Gln691His)
c.1980G>T (p.Gln660His)
c.1206G>T (p.Gln402His)
c.1119G>T (p.Gln373His)
c.1032G>T (p.Gln344His)
c.771+4350G>T (n.771+4350G>T)
n.839G>T
17g.46018629G>ACA225483MAPTc.922G>A (p.Val308Met)
c.835G>A (p.Val279Met)
c.1009G>A (p.Val337Met)
n.780G>A
n.235G>A
n.193G>A
n.427G>A
c.2185G>A (p.Val729Met)
c.1894G>A (p.Val632Met)
c.829G>A (p.Val277Met)
c.958G>A (p.Val320Met)
c.1960G>A (p.Val654Met)
c.742G>A (p.Val248Met)
c.2014G>A (p.Val672Met)
c.916G>A (p.Val306Met)
n.788G>A
n.6201G>A
c.2272G>A (p.Val758Met)
c.2179G>A (p.Val727Met)
c.2098G>A (p.Val700Met)
c.2074G>A (p.Val692Met)
c.1981G>A (p.Val661Met)
c.1207G>A (p.Val403Met)
c.1120G>A (p.Val374Met)
c.1033G>A (p.Val345Met)
c.771+4351G>A (n.771+4351G>A)
n.840G>A
 ClinVar dbSNP
17g.46018629G>CCA399983636MAPTc.922G>C (p.Val308Leu)
c.835G>C (p.Val279Leu)
c.1009G>C (p.Val337Leu)
n.780G>C
n.235G>C
n.193G>C
n.427G>C
c.2185G>C (p.Val729Leu)
c.1894G>C (p.Val632Leu)
c.829G>C (p.Val277Leu)
c.958G>C (p.Val320Leu)
c.1960G>C (p.Val654Leu)
c.742G>C (p.Val248Leu)
c.2014G>C (p.Val672Leu)
c.916G>C (p.Val306Leu)
n.788G>C
n.6201G>C
c.2272G>C (p.Val758Leu)
c.2179G>C (p.Val727Leu)
c.2098G>C (p.Val700Leu)
c.2074G>C (p.Val692Leu)
c.1981G>C (p.Val661Leu)
c.1207G>C (p.Val403Leu)
c.1120G>C (p.Val374Leu)
c.1033G>C (p.Val345Leu)
c.771+4351G>C (n.771+4351G>C)
n.840G>C
17g.46018629G=CA2262104727MAPTc.922G= (p.Val308=)
c.835G= (p.Val279=)
c.1009G= (p.Val337=)
n.780G=
n.235G=
n.193G=
n.427G=
c.2185G= (p.Val729=)
c.1894G= (p.Val632=)
c.829G= (p.Val277=)
c.958G= (p.Val320=)
c.1960G= (p.Val654=)
c.742G= (p.Val248=)
c.2014G= (p.Val672=)
c.916G= (p.Val306=)
n.788G=
n.6201G=
c.2272G= (p.Val758=)
c.2179G= (p.Val727=)
c.2098G= (p.Val700=)
c.2074G= (p.Val692=)
c.1981G= (p.Val661=)
c.1207G= (p.Val403=)
c.1120G= (p.Val374=)
c.1033G= (p.Val345=)
c.771+4351G= (n.771+4351G=)
n.840G=
17g.46018629G>TCA399983637MAPTc.922G>T (p.Val308Leu)
c.835G>T (p.Val279Leu)
c.1009G>T (p.Val337Leu)
n.780G>T
n.235G>T
n.193G>T
n.427G>T
c.2185G>T (p.Val729Leu)
c.1894G>T (p.Val632Leu)
c.829G>T (p.Val277Leu)
c.958G>T (p.Val320Leu)
c.1960G>T (p.Val654Leu)
c.742G>T (p.Val248Leu)
c.2014G>T (p.Val672Leu)
c.916G>T (p.Val306Leu)
n.788G>T
n.6201G>T
c.2272G>T (p.Val758Leu)
c.2179G>T (p.Val727Leu)
c.2098G>T (p.Val700Leu)
c.2074G>T (p.Val692Leu)
c.1981G>T (p.Val661Leu)
c.1207G>T (p.Val403Leu)
c.1120G>T (p.Val374Leu)
c.1033G>T (p.Val345Leu)
c.771+4351G>T (n.771+4351G>T)
n.840G>T
17g.46018630T>ACA399983638MAPTc.923T>A (p.Val308Glu)
c.836T>A (p.Val279Glu)
c.1010T>A (p.Val337Glu)
n.781T>A
n.236T>A
n.194T>A
n.428T>A
c.2186T>A (p.Val729Glu)
c.1895T>A (p.Val632Glu)
c.830T>A (p.Val277Glu)
c.959T>A (p.Val320Glu)
c.1961T>A (p.Val654Glu)
c.743T>A (p.Val248Glu)
c.2015T>A (p.Val672Glu)
c.917T>A (p.Val306Glu)
n.789T>A
n.6202T>A
c.2273T>A (p.Val758Glu)
c.2180T>A (p.Val727Glu)
c.2099T>A (p.Val700Glu)
c.2075T>A (p.Val692Glu)
c.1982T>A (p.Val661Glu)
c.1208T>A (p.Val403Glu)
c.1121T>A (p.Val374Glu)
c.1034T>A (p.Val345Glu)
c.771+4352T>A (n.771+4352T>A)
n.841T>A
17g.46018630T>CCA399983640MAPTc.923T>C (p.Val308Ala)
c.836T>C (p.Val279Ala)
c.1010T>C (p.Val337Ala)
n.781T>C
n.236T>C
n.194T>C
n.428T>C
c.2186T>C (p.Val729Ala)
c.1895T>C (p.Val632Ala)
c.830T>C (p.Val277Ala)
c.959T>C (p.Val320Ala)
c.1961T>C (p.Val654Ala)
c.743T>C (p.Val248Ala)
c.2015T>C (p.Val672Ala)
c.917T>C (p.Val306Ala)
n.789T>C
n.6202T>C
c.2273T>C (p.Val758Ala)
c.2180T>C (p.Val727Ala)
c.2099T>C (p.Val700Ala)
c.2075T>C (p.Val692Ala)
c.1982T>C (p.Val661Ala)
c.1208T>C (p.Val403Ala)
c.1121T>C (p.Val374Ala)
c.1034T>C (p.Val345Ala)
c.771+4352T>C (n.771+4352T>C)
n.841T>C
17g.46018630T>GCA399983639MAPTc.923T>G (p.Val308Gly)
c.836T>G (p.Val279Gly)
c.1010T>G (p.Val337Gly)
n.781T>G
n.236T>G
n.194T>G
n.428T>G
c.2186T>G (p.Val729Gly)
c.1895T>G (p.Val632Gly)
c.830T>G (p.Val277Gly)
c.959T>G (p.Val320Gly)
c.1961T>G (p.Val654Gly)
c.743T>G (p.Val248Gly)
c.2015T>G (p.Val672Gly)
c.917T>G (p.Val306Gly)
n.789T>G
n.6202T>G
c.2273T>G (p.Val758Gly)
c.2180T>G (p.Val727Gly)
c.2099T>G (p.Val700Gly)
c.2075T>G (p.Val692Gly)
c.1982T>G (p.Val661Gly)
c.1208T>G (p.Val403Gly)
c.1121T>G (p.Val374Gly)
c.1034T>G (p.Val345Gly)
c.771+4352T>G (n.771+4352T>G)
n.841T>G
17g.46018631G>ACA500371234MAPTc.924G>A (p.Val308=)
c.837G>A (p.Val279=)
c.1011G>A (p.Val337=)
n.782G>A
n.237G>A
n.195G>A
n.429G>A
c.2187G>A (p.Val729=)
c.1896G>A (p.Val632=)
c.831G>A (p.Val277=)
c.960G>A (p.Val320=)
c.1962G>A (p.Val654=)
c.744G>A (p.Val248=)
c.2016G>A (p.Val672=)
c.918G>A (p.Val306=)
n.790G>A
n.6203G>A
c.2274G>A (p.Val758=)
c.2181G>A (p.Val727=)
c.2100G>A (p.Val700=)
c.2076G>A (p.Val692=)
c.1983G>A (p.Val661=)
c.1209G>A (p.Val403=)
c.1122G>A (p.Val374=)
c.1035G>A (p.Val345=)
c.771+4353G>A (n.771+4353G>A)
n.842G>A
17g.46018631G>CCA500371232MAPTc.924G>C (p.Val308=)
c.837G>C (p.Val279=)
c.1011G>C (p.Val337=)
n.782G>C
n.237G>C
n.195G>C
n.429G>C
c.2187G>C (p.Val729=)
c.1896G>C (p.Val632=)
c.831G>C (p.Val277=)
c.960G>C (p.Val320=)
c.1962G>C (p.Val654=)
c.744G>C (p.Val248=)
c.2016G>C (p.Val672=)
c.918G>C (p.Val306=)
n.790G>C
n.6203G>C
c.2274G>C (p.Val758=)
c.2181G>C (p.Val727=)
c.2100G>C (p.Val700=)
c.2076G>C (p.Val692=)
c.1983G>C (p.Val661=)
c.1209G>C (p.Val403=)
c.1122G>C (p.Val374=)
c.1035G>C (p.Val345=)
c.771+4353G>C (n.771+4353G>C)
n.842G>C
17g.46018631G>TCA500371233MAPTc.924G>T (p.Val308=)
c.837G>T (p.Val279=)
c.1011G>T (p.Val337=)
n.782G>T
n.237G>T
n.195G>T
n.429G>T
c.2187G>T (p.Val729=)
c.1896G>T (p.Val632=)
c.831G>T (p.Val277=)
c.960G>T (p.Val320=)
c.1962G>T (p.Val654=)
c.744G>T (p.Val248=)
c.2016G>T (p.Val672=)
c.918G>T (p.Val306=)
n.790G>T
n.6203G>T
c.2274G>T (p.Val758=)
c.2181G>T (p.Val727=)
c.2100G>T (p.Val700=)
c.2076G>T (p.Val692=)
c.1983G>T (p.Val661=)
c.1209G>T (p.Val403=)
c.1122G>T (p.Val374=)
c.1035G>T (p.Val345=)
c.771+4353G>T (n.771+4353G>T)
n.842G>T
17g.46018632G>ACA399983641MAPTc.925G>A (p.Glu309Lys)
c.838G>A (p.Glu280Lys)
c.1012G>A (p.Glu338Lys)
n.783G>A
n.238G>A
n.196G>A
n.430G>A
c.2188G>A (p.Glu730Lys)
c.1897G>A (p.Glu633Lys)
c.832G>A (p.Glu278Lys)
c.961G>A (p.Glu321Lys)
c.1963G>A (p.Glu655Lys)
c.745G>A (p.Glu249Lys)
c.2017G>A (p.Glu673Lys)
c.919G>A (p.Glu307Lys)
n.791G>A
n.6204G>A
c.2275G>A (p.Glu759Lys)
c.2182G>A (p.Glu728Lys)
c.2101G>A (p.Glu701Lys)
c.2077G>A (p.Glu693Lys)
c.1984G>A (p.Glu662Lys)
c.1210G>A (p.Glu404Lys)
c.1123G>A (p.Glu375Lys)
c.1036G>A (p.Glu346Lys)
c.771+4354G>A (n.771+4354G>A)
n.843G>A
17g.46018632G>CCA399983642MAPTc.925G>C (p.Glu309Gln)
c.838G>C (p.Glu280Gln)
c.1012G>C (p.Glu338Gln)
n.783G>C
n.238G>C
n.196G>C
n.430G>C
c.2188G>C (p.Glu730Gln)
c.1897G>C (p.Glu633Gln)
c.832G>C (p.Glu278Gln)
c.961G>C (p.Glu321Gln)
c.1963G>C (p.Glu655Gln)
c.745G>C (p.Glu249Gln)
c.2017G>C (p.Glu673Gln)
c.919G>C (p.Glu307Gln)
n.791G>C
n.6204G>C
c.2275G>C (p.Glu759Gln)
c.2182G>C (p.Glu728Gln)
c.2101G>C (p.Glu701Gln)
c.2077G>C (p.Glu693Gln)
c.1984G>C (p.Glu662Gln)
c.1210G>C (p.Glu404Gln)
c.1123G>C (p.Glu375Gln)
c.1036G>C (p.Glu346Gln)
c.771+4354G>C (n.771+4354G>C)
n.843G>C
17g.46018632G>TCA399983643MAPTc.925G>T (p.Glu309Ter)
c.838G>T (p.Glu280Ter)
c.1012G>T (p.Glu338Ter)
n.783G>T
n.238G>T
n.196G>T
n.430G>T
c.2188G>T (p.Glu730Ter)
c.1897G>T (p.Glu633Ter)
c.832G>T (p.Glu278Ter)
c.961G>T (p.Glu321Ter)
c.1963G>T (p.Glu655Ter)
c.745G>T (p.Glu249Ter)
c.2017G>T (p.Glu673Ter)
c.919G>T (p.Glu307Ter)
n.791G>T
n.6204G>T
c.2275G>T (p.Glu759Ter)
c.2182G>T (p.Glu728Ter)
c.2101G>T (p.Glu701Ter)
c.2077G>T (p.Glu693Ter)
c.1984G>T (p.Glu662Ter)
c.1210G>T (p.Glu404Ter)
c.1123G>T (p.Glu375Ter)
c.1036G>T (p.Glu346Ter)
c.771+4354G>T (n.771+4354G>T)
n.843G>T
 COSMIC COSMIC
17g.46018633A>CCA399983644MAPTc.926A>C (p.Glu309Ala)
c.839A>C (p.Glu280Ala)
c.1013A>C (p.Glu338Ala)
n.784A>C
n.239A>C
n.197A>C
n.431A>C
c.2189A>C (p.Glu730Ala)
c.1898A>C (p.Glu633Ala)
c.833A>C (p.Glu278Ala)
c.962A>C (p.Glu321Ala)
c.1964A>C (p.Glu655Ala)
c.746A>C (p.Glu249Ala)
c.2018A>C (p.Glu673Ala)
c.920A>C (p.Glu307Ala)
n.792A>C
n.6205A>C
c.2276A>C (p.Glu759Ala)
c.2183A>C (p.Glu728Ala)
c.2102A>C (p.Glu701Ala)
c.2078A>C (p.Glu693Ala)
c.1985A>C (p.Glu662Ala)
c.1211A>C (p.Glu404Ala)
c.1124A>C (p.Glu375Ala)
c.1037A>C (p.Glu346Ala)
c.771+4355A>C (n.771+4355A>C)
n.844A>C
17g.46018633A>GCA399983645MAPTc.926A>G (p.Glu309Gly)
c.839A>G (p.Glu280Gly)
c.1013A>G (p.Glu338Gly)
n.784A>G
n.239A>G
n.197A>G
n.431A>G
c.2189A>G (p.Glu730Gly)
c.1898A>G (p.Glu633Gly)
c.833A>G (p.Glu278Gly)
c.962A>G (p.Glu321Gly)
c.1964A>G (p.Glu655Gly)
c.746A>G (p.Glu249Gly)
c.2018A>G (p.Glu673Gly)
c.920A>G (p.Glu307Gly)
n.792A>G
n.6205A>G
c.2276A>G (p.Glu759Gly)
c.2183A>G (p.Glu728Gly)
c.2102A>G (p.Glu701Gly)
c.2078A>G (p.Glu693Gly)
c.1985A>G (p.Glu662Gly)
c.1211A>G (p.Glu404Gly)
c.1124A>G (p.Glu375Gly)
c.1037A>G (p.Glu346Gly)
c.771+4355A>G (n.771+4355A>G)
n.844A>G
17g.46018633A>TCA399983646MAPTc.926A>T (p.Glu309Val)
c.839A>T (p.Glu280Val)
c.1013A>T (p.Glu338Val)
n.784A>T
n.239A>T
n.197A>T
n.431A>T
c.2189A>T (p.Glu730Val)
c.1898A>T (p.Glu633Val)
c.833A>T (p.Glu278Val)
c.962A>T (p.Glu321Val)
c.1964A>T (p.Glu655Val)
c.746A>T (p.Glu249Val)
c.2018A>T (p.Glu673Val)
c.920A>T (p.Glu307Val)
n.792A>T
n.6205A>T
c.2276A>T (p.Glu759Val)
c.2183A>T (p.Glu728Val)
c.2102A>T (p.Glu701Val)
c.2078A>T (p.Glu693Val)
c.1985A>T (p.Glu662Val)
c.1211A>T (p.Glu404Val)
c.1124A>T (p.Glu375Val)
c.1037A>T (p.Glu346Val)
c.771+4355A>T (n.771+4355A>T)
n.844A>T
17g.46018634A>CCA399983647MAPTc.927A>C (p.Glu309Asp)
c.840A>C (p.Glu280Asp)
c.1014A>C (p.Glu338Asp)
n.785A>C
n.240A>C
n.198A>C
n.432A>C
c.2190A>C (p.Glu730Asp)
c.1899A>C (p.Glu633Asp)
c.834A>C (p.Glu278Asp)
c.963A>C (p.Glu321Asp)
c.1965A>C (p.Glu655Asp)
c.747A>C (p.Glu249Asp)
c.2019A>C (p.Glu673Asp)
c.921A>C (p.Glu307Asp)
n.793A>C
n.6206A>C
c.2277A>C (p.Glu759Asp)
c.2184A>C (p.Glu728Asp)
c.2103A>C (p.Glu701Asp)
c.2079A>C (p.Glu693Asp)
c.1986A>C (p.Glu662Asp)
c.1212A>C (p.Glu404Asp)
c.1125A>C (p.Glu375Asp)
c.1038A>C (p.Glu346Asp)
c.771+4356A>C (n.771+4356A>C)
n.845A>C
17g.46018634A>GCA500371235MAPTc.927A>G (p.Glu309=)
c.840A>G (p.Glu280=)
c.1014A>G (p.Glu338=)
n.785A>G
n.240A>G
n.198A>G
n.432A>G
c.2190A>G (p.Glu730=)
c.1899A>G (p.Glu633=)
c.834A>G (p.Glu278=)
c.963A>G (p.Glu321=)
c.1965A>G (p.Glu655=)
c.747A>G (p.Glu249=)
c.2019A>G (p.Glu673=)
c.921A>G (p.Glu307=)
n.793A>G
n.6206A>G
c.2277A>G (p.Glu759=)
c.2184A>G (p.Glu728=)
c.2103A>G (p.Glu701=)
c.2079A>G (p.Glu693=)
c.1986A>G (p.Glu662=)
c.1212A>G (p.Glu404=)
c.1125A>G (p.Glu375=)
c.1038A>G (p.Glu346=)
c.771+4356A>G (n.771+4356A>G)
n.845A>G
17g.46018634A>TCA399983648MAPTc.927A>T (p.Glu309Asp)
c.840A>T (p.Glu280Asp)
c.1014A>T (p.Glu338Asp)
n.785A>T
n.240A>T
n.198A>T
n.432A>T
c.2190A>T (p.Glu730Asp)
c.1899A>T (p.Glu633Asp)
c.834A>T (p.Glu278Asp)
c.963A>T (p.Glu321Asp)
c.1965A>T (p.Glu655Asp)
c.747A>T (p.Glu249Asp)
c.2019A>T (p.Glu673Asp)
c.921A>T (p.Glu307Asp)
n.793A>T
n.6206A>T
c.2277A>T (p.Glu759Asp)
c.2184A>T (p.Glu728Asp)
c.2103A>T (p.Glu701Asp)
c.2079A>T (p.Glu693Asp)
c.1986A>T (p.Glu662Asp)
c.1212A>T (p.Glu404Asp)
c.1125A>T (p.Glu375Asp)
c.1038A>T (p.Glu346Asp)
c.771+4356A>T (n.771+4356A>T)
n.845A>T
17g.46018635G>ACA399983649MAPTc.928G>A (p.Val310Ile)
c.841G>A (p.Val281Ile)
c.1015G>A (p.Val339Ile)
n.786G>A
n.241G>A
n.199G>A
n.433G>A
c.2191G>A (p.Val731Ile)
c.1900G>A (p.Val634Ile)
c.835G>A (p.Val279Ile)
c.964G>A (p.Val322Ile)
c.1966G>A (p.Val656Ile)
c.748G>A (p.Val250Ile)
c.2020G>A (p.Val674Ile)
c.922G>A (p.Val308Ile)
n.794G>A
n.6207G>A
c.2278G>A (p.Val760Ile)
c.2185G>A (p.Val729Ile)
c.2104G>A (p.Val702Ile)
c.2080G>A (p.Val694Ile)
c.1987G>A (p.Val663Ile)
c.1213G>A (p.Val405Ile)
c.1126G>A (p.Val376Ile)
c.1039G>A (p.Val347Ile)
c.771+4357G>A (n.771+4357G>A)
n.846G>A
 dbSNP gnomAD v2 gnomAD v4
17g.46018635G>CCA399983650MAPTc.928G>C (p.Val310Leu)
c.841G>C (p.Val281Leu)
c.1015G>C (p.Val339Leu)
n.786G>C
n.241G>C
n.199G>C
n.433G>C
c.2191G>C (p.Val731Leu)
c.1900G>C (p.Val634Leu)
c.835G>C (p.Val279Leu)
c.964G>C (p.Val322Leu)
c.1966G>C (p.Val656Leu)
c.748G>C (p.Val250Leu)
c.2020G>C (p.Val674Leu)
c.922G>C (p.Val308Leu)
n.794G>C
n.6207G>C
c.2278G>C (p.Val760Leu)
c.2185G>C (p.Val729Leu)
c.2104G>C (p.Val702Leu)
c.2080G>C (p.Val694Leu)
c.1987G>C (p.Val663Leu)
c.1213G>C (p.Val405Leu)
c.1126G>C (p.Val376Leu)
c.1039G>C (p.Val347Leu)
c.771+4357G>C (n.771+4357G>C)
n.846G>C
17g.46018635G=CA2262104728MAPTc.928G= (p.Val310=)
c.841G= (p.Val281=)
c.1015G= (p.Val339=)
n.786G=
n.241G=
n.199G=
n.433G=
c.2191G= (p.Val731=)
c.1900G= (p.Val634=)
c.835G= (p.Val279=)
c.964G= (p.Val322=)
c.1966G= (p.Val656=)
c.748G= (p.Val250=)
c.2020G= (p.Val674=)
c.922G= (p.Val308=)
n.794G=
n.6207G=
c.2278G= (p.Val760=)
c.2185G= (p.Val729=)
c.2104G= (p.Val702=)
c.2080G= (p.Val694=)
c.1987G= (p.Val663=)
c.1213G= (p.Val405=)
c.1126G= (p.Val376=)
c.1039G= (p.Val347=)
c.771+4357G= (n.771+4357G=)
n.846G=
17g.46018635G>TCA399983651MAPTc.928G>T (p.Val310Leu)
c.841G>T (p.Val281Leu)
c.1015G>T (p.Val339Leu)
n.786G>T
n.241G>T
n.199G>T
n.433G>T
c.2191G>T (p.Val731Leu)
c.1900G>T (p.Val634Leu)
c.835G>T (p.Val279Leu)
c.964G>T (p.Val322Leu)
c.1966G>T (p.Val656Leu)
c.748G>T (p.Val250Leu)
c.2020G>T (p.Val674Leu)
c.922G>T (p.Val308Leu)
n.794G>T
n.6207G>T
c.2278G>T (p.Val760Leu)
c.2185G>T (p.Val729Leu)
c.2104G>T (p.Val702Leu)
c.2080G>T (p.Val694Leu)
c.1987G>T (p.Val663Leu)
c.1213G>T (p.Val405Leu)
c.1126G>T (p.Val376Leu)
c.1039G>T (p.Val347Leu)
c.771+4357G>T (n.771+4357G>T)
n.846G>T
17g.46018636T>ACA399983653MAPTc.929T>A (p.Val310Glu)
c.842T>A (p.Val281Glu)
c.1016T>A (p.Val339Glu)
n.787T>A
n.242T>A
n.200T>A
n.434T>A
c.2192T>A (p.Val731Glu)
c.1901T>A (p.Val634Glu)
c.836T>A (p.Val279Glu)
c.965T>A (p.Val322Glu)
c.1967T>A (p.Val656Glu)
c.749T>A (p.Val250Glu)
c.2021T>A (p.Val674Glu)
c.923T>A (p.Val308Glu)
n.795T>A
n.6208T>A
c.2279T>A (p.Val760Glu)
c.2186T>A (p.Val729Glu)
c.2105T>A (p.Val702Glu)
c.2081T>A (p.Val694Glu)
c.1988T>A (p.Val663Glu)
c.1214T>A (p.Val405Glu)
c.1127T>A (p.Val376Glu)
c.1040T>A (p.Val347Glu)
c.771+4358T>A (n.771+4358T>A)
n.847T>A
17g.46018636T>CCA399983654MAPTc.929T>C (p.Val310Ala)
c.842T>C (p.Val281Ala)
c.1016T>C (p.Val339Ala)
n.787T>C
n.242T>C
n.200T>C
n.434T>C
c.2192T>C (p.Val731Ala)
c.1901T>C (p.Val634Ala)
c.836T>C (p.Val279Ala)
c.965T>C (p.Val322Ala)
c.1967T>C (p.Val656Ala)
c.749T>C (p.Val250Ala)
c.2021T>C (p.Val674Ala)
c.923T>C (p.Val308Ala)
n.795T>C
n.6208T>C
c.2279T>C (p.Val760Ala)
c.2186T>C (p.Val729Ala)
c.2105T>C (p.Val702Ala)
c.2081T>C (p.Val694Ala)
c.1988T>C (p.Val663Ala)
c.1214T>C (p.Val405Ala)
c.1127T>C (p.Val376Ala)
c.1040T>C (p.Val347Ala)
c.771+4358T>C (n.771+4358T>C)
n.847T>C
17g.46018636T>GCA399983652MAPTc.929T>G (p.Val310Gly)
c.842T>G (p.Val281Gly)
c.1016T>G (p.Val339Gly)
n.787T>G
n.242T>G
n.200T>G
n.434T>G
c.2192T>G (p.Val731Gly)
c.1901T>G (p.Val634Gly)
c.836T>G (p.Val279Gly)
c.965T>G (p.Val322Gly)
c.1967T>G (p.Val656Gly)
c.749T>G (p.Val250Gly)
c.2021T>G (p.Val674Gly)
c.923T>G (p.Val308Gly)
n.795T>G
n.6208T>G
c.2279T>G (p.Val760Gly)
c.2186T>G (p.Val729Gly)
c.2105T>G (p.Val702Gly)
c.2081T>G (p.Val694Gly)
c.1988T>G (p.Val663Gly)
c.1214T>G (p.Val405Gly)
c.1127T>G (p.Val376Gly)
c.1040T>G (p.Val347Gly)
c.771+4358T>G (n.771+4358T>G)
n.847T>G
17g.46018637A=CA2262104729MAPTc.930A= (p.Val310=)
c.843A= (p.Val281=)
c.1017A= (p.Val339=)
n.788A=
n.243A=
n.201A=
n.435A=
c.2193A= (p.Val731=)
c.1902A= (p.Val634=)
c.837A= (p.Val279=)
c.966A= (p.Val322=)
c.1968A= (p.Val656=)
c.750A= (p.Val250=)
c.2022A= (p.Val674=)
c.924A= (p.Val308=)
n.796A=
n.6209A=
c.2280A= (p.Val760=)
c.2187A= (p.Val729=)
c.2106A= (p.Val702=)
c.2082A= (p.Val694=)
c.1989A= (p.Val663=)
c.1215A= (p.Val405=)
c.1128A= (p.Val376=)
c.1041A= (p.Val347=)
c.771+4359A= (n.771+4359A=)
n.848A=
17g.46018637A>CCA291114675MAPTc.930A>C (p.Val310=)
c.843A>C (p.Val281=)
c.1017A>C (p.Val339=)
n.788A>C
n.243A>C
n.201A>C
n.435A>C
c.2193A>C (p.Val731=)
c.1902A>C (p.Val634=)
c.837A>C (p.Val279=)
c.966A>C (p.Val322=)
c.1968A>C (p.Val656=)
c.750A>C (p.Val250=)
c.2022A>C (p.Val674=)
c.924A>C (p.Val308=)
n.796A>C
n.6209A>C
c.2280A>C (p.Val760=)
c.2187A>C (p.Val729=)
c.2106A>C (p.Val702=)
c.2082A>C (p.Val694=)
c.1989A>C (p.Val663=)
c.1215A>C (p.Val405=)
c.1128A>C (p.Val376=)
c.1041A>C (p.Val347=)
c.771+4359A>C (n.771+4359A>C)
n.848A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46018637A>GCA500371236MAPTc.930A>G (p.Val310=)
c.843A>G (p.Val281=)
c.1017A>G (p.Val339=)
n.788A>G
n.243A>G
n.201A>G
n.435A>G
c.2193A>G (p.Val731=)
c.1902A>G (p.Val634=)
c.837A>G (p.Val279=)
c.966A>G (p.Val322=)
c.1968A>G (p.Val656=)
c.750A>G (p.Val250=)
c.2022A>G (p.Val674=)
c.924A>G (p.Val308=)
n.796A>G
n.6209A>G
c.2280A>G (p.Val760=)
c.2187A>G (p.Val729=)
c.2106A>G (p.Val702=)
c.2082A>G (p.Val694=)
c.1989A>G (p.Val663=)
c.1215A>G (p.Val405=)
c.1128A>G (p.Val376=)
c.1041A>G (p.Val347=)
c.771+4359A>G (n.771+4359A>G)
n.848A>G
 gnomAD v4
17g.46018637A>TCA500371237MAPTc.930A>T (p.Val310=)
c.843A>T (p.Val281=)
c.1017A>T (p.Val339=)
n.788A>T
n.243A>T
n.201A>T
n.435A>T
c.2193A>T (p.Val731=)
c.1902A>T (p.Val634=)
c.837A>T (p.Val279=)
c.966A>T (p.Val322=)
c.1968A>T (p.Val656=)
c.750A>T (p.Val250=)
c.2022A>T (p.Val674=)
c.924A>T (p.Val308=)
n.796A>T
n.6209A>T
c.2280A>T (p.Val760=)
c.2187A>T (p.Val729=)
c.2106A>T (p.Val702=)
c.2082A>T (p.Val694=)
c.1989A>T (p.Val663=)
c.1215A>T (p.Val405=)
c.1128A>T (p.Val376=)
c.1041A>T (p.Val347=)
c.771+4359A>T (n.771+4359A>T)
n.848A>T
17g.46018638A>CCA399983655MAPTc.931A>C (p.Lys311Gln)
c.844A>C (p.Lys282Gln)
c.1018A>C (p.Lys340Gln)
n.789A>C
n.244A>C
n.202A>C
n.436A>C
c.2194A>C (p.Lys732Gln)
c.1903A>C (p.Lys635Gln)
c.838A>C (p.Lys280Gln)
c.967A>C (p.Lys323Gln)
c.1969A>C (p.Lys657Gln)
c.751A>C (p.Lys251Gln)
c.2023A>C (p.Lys675Gln)
c.925A>C (p.Lys309Gln)
n.797A>C
n.6210A>C
c.2281A>C (p.Lys761Gln)
c.2188A>C (p.Lys730Gln)
c.2107A>C (p.Lys703Gln)
c.2083A>C (p.Lys695Gln)
c.1990A>C (p.Lys664Gln)
c.1216A>C (p.Lys406Gln)
c.1129A>C (p.Lys377Gln)
c.1042A>C (p.Lys348Gln)
c.771+4360A>C (n.771+4360A>C)
n.849A>C
17g.46018638A>GCA399983656MAPTc.931A>G (p.Lys311Glu)
c.844A>G (p.Lys282Glu)
c.1018A>G (p.Lys340Glu)
n.789A>G
n.244A>G
n.202A>G
n.436A>G
c.2194A>G (p.Lys732Glu)
c.1903A>G (p.Lys635Glu)
c.838A>G (p.Lys280Glu)
c.967A>G (p.Lys323Glu)
c.1969A>G (p.Lys657Glu)
c.751A>G (p.Lys251Glu)
c.2023A>G (p.Lys675Glu)
c.925A>G (p.Lys309Glu)
n.797A>G
n.6210A>G
c.2281A>G (p.Lys761Glu)
c.2188A>G (p.Lys730Glu)
c.2107A>G (p.Lys703Glu)
c.2083A>G (p.Lys695Glu)
c.1990A>G (p.Lys664Glu)
c.1216A>G (p.Lys406Glu)
c.1129A>G (p.Lys377Glu)
c.1042A>G (p.Lys348Glu)
c.771+4360A>G (n.771+4360A>G)
n.849A>G
17g.46018638A>TCA399983657MAPTc.931A>T (p.Lys311Ter)
c.844A>T (p.Lys282Ter)
c.1018A>T (p.Lys340Ter)
n.789A>T
n.244A>T
n.202A>T
n.436A>T
c.2194A>T (p.Lys732Ter)
c.1903A>T (p.Lys635Ter)
c.838A>T (p.Lys280Ter)
c.967A>T (p.Lys323Ter)
c.1969A>T (p.Lys657Ter)
c.751A>T (p.Lys251Ter)
c.2023A>T (p.Lys675Ter)
c.925A>T (p.Lys309Ter)
n.797A>T
n.6210A>T
c.2281A>T (p.Lys761Ter)
c.2188A>T (p.Lys730Ter)
c.2107A>T (p.Lys703Ter)
c.2083A>T (p.Lys695Ter)
c.1990A>T (p.Lys664Ter)
c.1216A>T (p.Lys406Ter)
c.1129A>T (p.Lys377Ter)
c.1042A>T (p.Lys348Ter)
c.771+4360A>T (n.771+4360A>T)
n.849A>T
17g.46018639A>CCA399983658MAPTc.932A>C (p.Lys311Thr)
c.845A>C (p.Lys282Thr)
c.1019A>C (p.Lys340Thr)
n.790A>C
n.245A>C
n.203A>C
n.437A>C
c.2195A>C (p.Lys732Thr)
c.1904A>C (p.Lys635Thr)
c.839A>C (p.Lys280Thr)
c.968A>C (p.Lys323Thr)
c.1970A>C (p.Lys657Thr)
c.752A>C (p.Lys251Thr)
c.2024A>C (p.Lys675Thr)
c.926A>C (p.Lys309Thr)
n.798A>C
n.6211A>C
c.2282A>C (p.Lys761Thr)
c.2189A>C (p.Lys730Thr)
c.2108A>C (p.Lys703Thr)
c.2084A>C (p.Lys695Thr)
c.1991A>C (p.Lys664Thr)
c.1217A>C (p.Lys406Thr)
c.1130A>C (p.Lys377Thr)
c.1043A>C (p.Lys348Thr)
c.771+4361A>C (n.771+4361A>C)
n.850A>C
 gnomAD v4
17g.46018639A>GCA399983659MAPTc.932A>G (p.Lys311Arg)
c.845A>G (p.Lys282Arg)
c.1019A>G (p.Lys340Arg)
n.790A>G
n.245A>G
n.203A>G
n.437A>G
c.2195A>G (p.Lys732Arg)
c.1904A>G (p.Lys635Arg)
c.839A>G (p.Lys280Arg)
c.968A>G (p.Lys323Arg)
c.1970A>G (p.Lys657Arg)
c.752A>G (p.Lys251Arg)
c.2024A>G (p.Lys675Arg)
c.926A>G (p.Lys309Arg)
n.798A>G
n.6211A>G
c.2282A>G (p.Lys761Arg)
c.2189A>G (p.Lys730Arg)
c.2108A>G (p.Lys703Arg)
c.2084A>G (p.Lys695Arg)
c.1991A>G (p.Lys664Arg)
c.1217A>G (p.Lys406Arg)
c.1130A>G (p.Lys377Arg)
c.1043A>G (p.Lys348Arg)
c.771+4361A>G (n.771+4361A>G)
n.850A>G
17g.46018639A>TCA399983660MAPTc.932A>T (p.Lys311Ile)
c.845A>T (p.Lys282Ile)
c.1019A>T (p.Lys340Ile)
n.790A>T
n.245A>T
n.203A>T
n.437A>T
c.2195A>T (p.Lys732Ile)
c.1904A>T (p.Lys635Ile)
c.839A>T (p.Lys280Ile)
c.968A>T (p.Lys323Ile)
c.1970A>T (p.Lys657Ile)
c.752A>T (p.Lys251Ile)
c.2024A>T (p.Lys675Ile)
c.926A>T (p.Lys309Ile)
n.798A>T
n.6211A>T
c.2282A>T (p.Lys761Ile)
c.2189A>T (p.Lys730Ile)
c.2108A>T (p.Lys703Ile)
c.2084A>T (p.Lys695Ile)
c.1991A>T (p.Lys664Ile)
c.1217A>T (p.Lys406Ile)
c.1130A>T (p.Lys377Ile)
c.1043A>T (p.Lys348Ile)
c.771+4361A>T (n.771+4361A>T)
n.850A>T
17g.46018640A>CCA399983661MAPTc.933A>C (p.Lys311Asn)
c.846A>C (p.Lys282Asn)
c.1020A>C (p.Lys340Asn)
n.791A>C
n.246A>C
n.204A>C
n.438A>C
c.2196A>C (p.Lys732Asn)
c.1905A>C (p.Lys635Asn)
c.840A>C (p.Lys280Asn)
c.969A>C (p.Lys323Asn)
c.1971A>C (p.Lys657Asn)
c.753A>C (p.Lys251Asn)
c.2025A>C (p.Lys675Asn)
c.927A>C (p.Lys309Asn)
n.799A>C
n.6212A>C
c.2283A>C (p.Lys761Asn)
c.2190A>C (p.Lys730Asn)
c.2109A>C (p.Lys703Asn)
c.2085A>C (p.Lys695Asn)
c.1992A>C (p.Lys664Asn)
c.1218A>C (p.Lys406Asn)
c.1131A>C (p.Lys377Asn)
c.1044A>C (p.Lys348Asn)
c.771+4362A>C (n.771+4362A>C)
n.851A>C
17g.46018640A>GCA500371238MAPTc.933A>G (p.Lys311=)
c.846A>G (p.Lys282=)
c.1020A>G (p.Lys340=)
n.791A>G
n.246A>G
n.204A>G
n.438A>G
c.2196A>G (p.Lys732=)
c.1905A>G (p.Lys635=)
c.840A>G (p.Lys280=)
c.969A>G (p.Lys323=)
c.1971A>G (p.Lys657=)
c.753A>G (p.Lys251=)
c.2025A>G (p.Lys675=)
c.927A>G (p.Lys309=)
n.799A>G
n.6212A>G
c.2283A>G (p.Lys761=)
c.2190A>G (p.Lys730=)
c.2109A>G (p.Lys703=)
c.2085A>G (p.Lys695=)
c.1992A>G (p.Lys664=)
c.1218A>G (p.Lys406=)
c.1131A>G (p.Lys377=)
c.1044A>G (p.Lys348=)
c.771+4362A>G (n.771+4362A>G)
n.851A>G
17g.46018640A>TCA399983662MAPTc.933A>T (p.Lys311Asn)
c.846A>T (p.Lys282Asn)
c.1020A>T (p.Lys340Asn)
n.791A>T
n.246A>T
n.204A>T
n.438A>T
c.2196A>T (p.Lys732Asn)
c.1905A>T (p.Lys635Asn)
c.840A>T (p.Lys280Asn)
c.969A>T (p.Lys323Asn)
c.1971A>T (p.Lys657Asn)
c.753A>T (p.Lys251Asn)
c.2025A>T (p.Lys675Asn)
c.927A>T (p.Lys309Asn)
n.799A>T
n.6212A>T
c.2283A>T (p.Lys761Asn)
c.2190A>T (p.Lys730Asn)
c.2109A>T (p.Lys703Asn)
c.2085A>T (p.Lys695Asn)
c.1992A>T (p.Lys664Asn)
c.1218A>T (p.Lys406Asn)
c.1131A>T (p.Lys377Asn)
c.1044A>T (p.Lys348Asn)
c.771+4362A>T (n.771+4362A>T)
n.851A>T
17g.46018641T>ACA399983663MAPTc.934T>A (p.Ser312Thr)
c.847T>A (p.Ser283Thr)
c.1021T>A (p.Ser341Thr)
n.792T>A
n.247T>A
n.205T>A
n.439T>A
c.2197T>A (p.Ser733Thr)
c.1906T>A (p.Ser636Thr)
c.841T>A (p.Ser281Thr)
c.970T>A (p.Ser324Thr)
c.1972T>A (p.Ser658Thr)
c.754T>A (p.Ser252Thr)
c.2026T>A (p.Ser676Thr)
c.928T>A (p.Ser310Thr)
n.800T>A
n.6213T>A
c.2284T>A (p.Ser762Thr)
c.2191T>A (p.Ser731Thr)
c.2110T>A (p.Ser704Thr)
c.2086T>A (p.Ser696Thr)
c.1993T>A (p.Ser665Thr)
c.1219T>A (p.Ser407Thr)
c.1132T>A (p.Ser378Thr)
c.1045T>A (p.Ser349Thr)
c.771+4363T>A (n.771+4363T>A)
n.852T>A
17g.46018641T>CCA399983664MAPTc.934T>C (p.Ser312Pro)
c.847T>C (p.Ser283Pro)
c.1021T>C (p.Ser341Pro)
n.792T>C
n.247T>C
n.205T>C
n.439T>C
c.2197T>C (p.Ser733Pro)
c.1906T>C (p.Ser636Pro)
c.841T>C (p.Ser281Pro)
c.970T>C (p.Ser324Pro)
c.1972T>C (p.Ser658Pro)
c.754T>C (p.Ser252Pro)
c.2026T>C (p.Ser676Pro)
c.928T>C (p.Ser310Pro)
n.800T>C
n.6213T>C
c.2284T>C (p.Ser762Pro)
c.2191T>C (p.Ser731Pro)
c.2110T>C (p.Ser704Pro)
c.2086T>C (p.Ser696Pro)
c.1993T>C (p.Ser665Pro)
c.1219T>C (p.Ser407Pro)
c.1132T>C (p.Ser378Pro)
c.1045T>C (p.Ser349Pro)
c.771+4363T>C (n.771+4363T>C)
n.852T>C
17g.46018641T>GCA399983665MAPTc.934T>G (p.Ser312Ala)
c.847T>G (p.Ser283Ala)
c.1021T>G (p.Ser341Ala)
n.792T>G
n.247T>G
n.205T>G
n.439T>G
c.2197T>G (p.Ser733Ala)
c.1906T>G (p.Ser636Ala)
c.841T>G (p.Ser281Ala)
c.970T>G (p.Ser324Ala)
c.1972T>G (p.Ser658Ala)
c.754T>G (p.Ser252Ala)
c.2026T>G (p.Ser676Ala)
c.928T>G (p.Ser310Ala)
n.800T>G
n.6213T>G
c.2284T>G (p.Ser762Ala)
c.2191T>G (p.Ser731Ala)
c.2110T>G (p.Ser704Ala)
c.2086T>G (p.Ser696Ala)
c.1993T>G (p.Ser665Ala)
c.1219T>G (p.Ser407Ala)
c.1132T>G (p.Ser378Ala)
c.1045T>G (p.Ser349Ala)
c.771+4363T>G (n.771+4363T>G)
n.852T>G
17g.46018642C>ACA399983666MAPTc.935C>A (p.Ser312Tyr)
c.848C>A (p.Ser283Tyr)
c.1022C>A (p.Ser341Tyr)
n.793C>A
n.248C>A
n.206C>A
n.440C>A
c.2198C>A (p.Ser733Tyr)
c.1907C>A (p.Ser636Tyr)
c.842C>A (p.Ser281Tyr)
c.971C>A (p.Ser324Tyr)
c.1973C>A (p.Ser658Tyr)
c.755C>A (p.Ser252Tyr)
c.2027C>A (p.Ser676Tyr)
c.929C>A (p.Ser310Tyr)
n.801C>A
n.6214C>A
c.2285C>A (p.Ser762Tyr)
c.2192C>A (p.Ser731Tyr)
c.2111C>A (p.Ser704Tyr)
c.2087C>A (p.Ser696Tyr)
c.1994C>A (p.Ser665Tyr)
c.1220C>A (p.Ser407Tyr)
c.1133C>A (p.Ser378Tyr)
c.1046C>A (p.Ser349Tyr)
c.771+4364C>A (n.771+4364C>A)
n.853C>A
17g.46018642C>GCA399983667MAPTc.935C>G (p.Ser312Cys)
c.848C>G (p.Ser283Cys)
c.1022C>G (p.Ser341Cys)
n.793C>G
n.248C>G
n.206C>G
n.440C>G
c.2198C>G (p.Ser733Cys)
c.1907C>G (p.Ser636Cys)
c.842C>G (p.Ser281Cys)
c.971C>G (p.Ser324Cys)
c.1973C>G (p.Ser658Cys)
c.755C>G (p.Ser252Cys)
c.2027C>G (p.Ser676Cys)
c.929C>G (p.Ser310Cys)
n.801C>G
n.6214C>G
c.2285C>G (p.Ser762Cys)
c.2192C>G (p.Ser731Cys)
c.2111C>G (p.Ser704Cys)
c.2087C>G (p.Ser696Cys)
c.1994C>G (p.Ser665Cys)
c.1220C>G (p.Ser407Cys)
c.1133C>G (p.Ser378Cys)
c.1046C>G (p.Ser349Cys)
c.771+4364C>G (n.771+4364C>G)
n.853C>G
17g.46018642C>TCA399983668MAPTc.935C>T (p.Ser312Phe)
c.848C>T (p.Ser283Phe)
c.1022C>T (p.Ser341Phe)
n.793C>T
n.248C>T
n.206C>T
n.440C>T
c.2198C>T (p.Ser733Phe)
c.1907C>T (p.Ser636Phe)
c.842C>T (p.Ser281Phe)
c.971C>T (p.Ser324Phe)
c.1973C>T (p.Ser658Phe)
c.755C>T (p.Ser252Phe)
c.2027C>T (p.Ser676Phe)
c.929C>T (p.Ser310Phe)
n.801C>T
n.6214C>T
c.2285C>T (p.Ser762Phe)
c.2192C>T (p.Ser731Phe)
c.2111C>T (p.Ser704Phe)
c.2087C>T (p.Ser696Phe)
c.1994C>T (p.Ser665Phe)
c.1220C>T (p.Ser407Phe)
c.1133C>T (p.Ser378Phe)
c.1046C>T (p.Ser349Phe)
c.771+4364C>T (n.771+4364C>T)
n.853C>T
17g.46018643T>ACA500371239MAPTc.936T>A (p.Ser312=)
c.849T>A (p.Ser283=)
c.1023T>A (p.Ser341=)
n.794T>A
n.249T>A
n.207T>A
n.441T>A
c.2199T>A (p.Ser733=)
c.1908T>A (p.Ser636=)
c.843T>A (p.Ser281=)
c.972T>A (p.Ser324=)
c.1974T>A (p.Ser658=)
c.756T>A (p.Ser252=)
c.2028T>A (p.Ser676=)
c.930T>A (p.Ser310=)
n.802T>A
n.6215T>A
c.2286T>A (p.Ser762=)
c.2193T>A (p.Ser731=)
c.2112T>A (p.Ser704=)
c.2088T>A (p.Ser696=)
c.1995T>A (p.Ser665=)
c.1221T>A (p.Ser407=)
c.1134T>A (p.Ser378=)
c.1047T>A (p.Ser349=)
c.771+4365T>A (n.771+4365T>A)
n.854T>A
17g.46018643T>CCA500371240MAPTc.936T>C (p.Ser312=)
c.849T>C (p.Ser283=)
c.1023T>C (p.Ser341=)
n.794T>C
n.249T>C
n.207T>C
n.441T>C
c.2199T>C (p.Ser733=)
c.1908T>C (p.Ser636=)
c.843T>C (p.Ser281=)
c.972T>C (p.Ser324=)
c.1974T>C (p.Ser658=)
c.756T>C (p.Ser252=)
c.2028T>C (p.Ser676=)
c.930T>C (p.Ser310=)
n.802T>C
n.6215T>C
c.2286T>C (p.Ser762=)
c.2193T>C (p.Ser731=)
c.2112T>C (p.Ser704=)
c.2088T>C (p.Ser696=)
c.1995T>C (p.Ser665=)
c.1221T>C (p.Ser407=)
c.1134T>C (p.Ser378=)
c.1047T>C (p.Ser349=)
c.771+4365T>C (n.771+4365T>C)
n.854T>C
17g.46018643T>GCA500371241MAPTc.936T>G (p.Ser312=)
c.849T>G (p.Ser283=)
c.1023T>G (p.Ser341=)
n.794T>G
n.249T>G
n.207T>G
n.441T>G
c.2199T>G (p.Ser733=)
c.1908T>G (p.Ser636=)
c.843T>G (p.Ser281=)
c.972T>G (p.Ser324=)
c.1974T>G (p.Ser658=)
c.756T>G (p.Ser252=)
c.2028T>G (p.Ser676=)
c.930T>G (p.Ser310=)
n.802T>G
n.6215T>G
c.2286T>G (p.Ser762=)
c.2193T>G (p.Ser731=)
c.2112T>G (p.Ser704=)
c.2088T>G (p.Ser696=)
c.1995T>G (p.Ser665=)
c.1221T>G (p.Ser407=)
c.1134T>G (p.Ser378=)
c.1047T>G (p.Ser349=)
c.771+4365T>G (n.771+4365T>G)
n.854T>G
17g.46018644G>ACA399983671MAPTc.937G>A (p.Glu313Lys)
c.850G>A (p.Glu284Lys)
c.1024G>A (p.Glu342Lys)
n.795G>A
n.250G>A
n.208G>A
n.442G>A
c.2200G>A (p.Glu734Lys)
c.1909G>A (p.Glu637Lys)
c.844G>A (p.Glu282Lys)
c.973G>A (p.Glu325Lys)
c.1975G>A (p.Glu659Lys)
c.757G>A (p.Glu253Lys)
c.2029G>A (p.Glu677Lys)
c.931G>A (p.Glu311Lys)
n.803G>A
n.6216G>A
c.2287G>A (p.Glu763Lys)
c.2194G>A (p.Glu732Lys)
c.2113G>A (p.Glu705Lys)
c.2089G>A (p.Glu697Lys)
c.1996G>A (p.Glu666Lys)
c.1222G>A (p.Glu408Lys)
c.1135G>A (p.Glu379Lys)
c.1048G>A (p.Glu350Lys)
c.771+4366G>A (n.771+4366G>A)
n.855G>A
17g.46018644G>CCA399983670MAPTc.937G>C (p.Glu313Gln)
c.850G>C (p.Glu284Gln)
c.1024G>C (p.Glu342Gln)
n.795G>C
n.250G>C
n.208G>C
n.442G>C
c.2200G>C (p.Glu734Gln)
c.1909G>C (p.Glu637Gln)
c.844G>C (p.Glu282Gln)
c.973G>C (p.Glu325Gln)
c.1975G>C (p.Glu659Gln)
c.757G>C (p.Glu253Gln)
c.2029G>C (p.Glu677Gln)
c.931G>C (p.Glu311Gln)
n.803G>C
n.6216G>C
c.2287G>C (p.Glu763Gln)
c.2194G>C (p.Glu732Gln)
c.2113G>C (p.Glu705Gln)
c.2089G>C (p.Glu697Gln)
c.1996G>C (p.Glu666Gln)
c.1222G>C (p.Glu408Gln)
c.1135G>C (p.Glu379Gln)
c.1048G>C (p.Glu350Gln)
c.771+4366G>C (n.771+4366G>C)
n.855G>C
17g.46018644G>TCA399983669MAPTc.937G>T (p.Glu313Ter)
c.850G>T (p.Glu284Ter)
c.1024G>T (p.Glu342Ter)
n.795G>T
n.250G>T
n.208G>T
n.442G>T
c.2200G>T (p.Glu734Ter)
c.1909G>T (p.Glu637Ter)
c.844G>T (p.Glu282Ter)
c.973G>T (p.Glu325Ter)
c.1975G>T (p.Glu659Ter)
c.757G>T (p.Glu253Ter)
c.2029G>T (p.Glu677Ter)
c.931G>T (p.Glu311Ter)
n.803G>T
n.6216G>T
c.2287G>T (p.Glu763Ter)
c.2194G>T (p.Glu732Ter)
c.2113G>T (p.Glu705Ter)
c.2089G>T (p.Glu697Ter)
c.1996G>T (p.Glu666Ter)
c.1222G>T (p.Glu408Ter)
c.1135G>T (p.Glu379Ter)
c.1048G>T (p.Glu350Ter)
c.771+4366G>T (n.771+4366G>T)
n.855G>T
17g.46018645A=CA2262104730MAPTc.938A= (p.Glu313=)
c.851A= (p.Glu284=)
c.1025A= (p.Glu342=)
n.796A=
n.251A=
n.209A=
n.443A=
c.2201A= (p.Glu734=)
c.1910A= (p.Glu637=)
c.845A= (p.Glu282=)
c.974A= (p.Glu325=)
c.1976A= (p.Glu659=)
c.758A= (p.Glu253=)
c.2030A= (p.Glu677=)
c.932A= (p.Glu311=)
n.804A=
n.6217A=
c.2288A= (p.Glu763=)
c.2195A= (p.Glu732=)
c.2114A= (p.Glu705=)
c.2090A= (p.Glu697=)
c.1997A= (p.Glu666=)
c.1223A= (p.Glu408=)
c.1136A= (p.Glu379=)
c.1049A= (p.Glu350=)
c.771+4367A= (n.771+4367A=)
n.856A=
17g.46018645A>CCA399983672MAPTc.938A>C (p.Glu313Ala)
c.851A>C (p.Glu284Ala)
c.1025A>C (p.Glu342Ala)
n.796A>C
n.251A>C
n.209A>C
n.443A>C
c.2201A>C (p.Glu734Ala)
c.1910A>C (p.Glu637Ala)
c.845A>C (p.Glu282Ala)
c.974A>C (p.Glu325Ala)
c.1976A>C (p.Glu659Ala)
c.758A>C (p.Glu253Ala)
c.2030A>C (p.Glu677Ala)
c.932A>C (p.Glu311Ala)
n.804A>C
n.6217A>C
c.2288A>C (p.Glu763Ala)
c.2195A>C (p.Glu732Ala)
c.2114A>C (p.Glu705Ala)
c.2090A>C (p.Glu697Ala)
c.1997A>C (p.Glu666Ala)
c.1223A>C (p.Glu408Ala)
c.1136A>C (p.Glu379Ala)
c.1049A>C (p.Glu350Ala)
c.771+4367A>C (n.771+4367A>C)
n.856A>C
17g.46018645A>GCA399983673MAPTc.938A>G (p.Glu313Gly)
c.851A>G (p.Glu284Gly)
c.1025A>G (p.Glu342Gly)
n.796A>G
n.251A>G
n.209A>G
n.443A>G
c.2201A>G (p.Glu734Gly)
c.1910A>G (p.Glu637Gly)
c.845A>G (p.Glu282Gly)
c.974A>G (p.Glu325Gly)
c.1976A>G (p.Glu659Gly)
c.758A>G (p.Glu253Gly)
c.2030A>G (p.Glu677Gly)
c.932A>G (p.Glu311Gly)
n.804A>G
n.6217A>G
c.2288A>G (p.Glu763Gly)
c.2195A>G (p.Glu732Gly)
c.2114A>G (p.Glu705Gly)
c.2090A>G (p.Glu697Gly)
c.1997A>G (p.Glu666Gly)
c.1223A>G (p.Glu408Gly)
c.1136A>G (p.Glu379Gly)
c.1049A>G (p.Glu350Gly)
c.771+4367A>G (n.771+4367A>G)
n.856A>G
17g.46018645A>TCA225485MAPTc.938A>T (p.Glu313Val)
c.851A>T (p.Glu284Val)
c.1025A>T (p.Glu342Val)
n.796A>T
n.251A>T
n.209A>T
n.443A>T
c.2201A>T (p.Glu734Val)
c.1910A>T (p.Glu637Val)
c.845A>T (p.Glu282Val)
c.974A>T (p.Glu325Val)
c.1976A>T (p.Glu659Val)
c.758A>T (p.Glu253Val)
c.2030A>T (p.Glu677Val)
c.932A>T (p.Glu311Val)
n.804A>T
n.6217A>T
c.2288A>T (p.Glu763Val)
c.2195A>T (p.Glu732Val)
c.2114A>T (p.Glu705Val)
c.2090A>T (p.Glu697Val)
c.1997A>T (p.Glu666Val)
c.1223A>T (p.Glu408Val)
c.1136A>T (p.Glu379Val)
c.1049A>T (p.Glu350Val)
c.771+4367A>T (n.771+4367A>T)
n.856A>T
 ClinVar dbSNP
17g.46018646G>ACA500371242MAPTc.939G>A (p.Glu313=)
c.852G>A (p.Glu284=)
c.1026G>A (p.Glu342=)
n.797G>A
n.252G>A
n.210G>A
n.444G>A
c.2202G>A (p.Glu734=)
c.1911G>A (p.Glu637=)
c.846G>A (p.Glu282=)
c.975G>A (p.Glu325=)
c.1977G>A (p.Glu659=)
c.759G>A (p.Glu253=)
c.2031G>A (p.Glu677=)
c.933G>A (p.Glu311=)
n.805G>A
n.6218G>A
c.2289G>A (p.Glu763=)
c.2196G>A (p.Glu732=)
c.2115G>A (p.Glu705=)
c.2091G>A (p.Glu697=)
c.1998G>A (p.Glu666=)
c.1224G>A (p.Glu408=)
c.1137G>A (p.Glu379=)
c.1050G>A (p.Glu350=)
c.771+4368G>A (n.771+4368G>A)
n.857G>A
17g.46018646G>CCA399983674MAPTc.939G>C (p.Glu313Asp)
c.852G>C (p.Glu284Asp)
c.1026G>C (p.Glu342Asp)
n.797G>C
n.252G>C
n.210G>C
n.444G>C
c.2202G>C (p.Glu734Asp)
c.1911G>C (p.Glu637Asp)
c.846G>C (p.Glu282Asp)
c.975G>C (p.Glu325Asp)
c.1977G>C (p.Glu659Asp)
c.759G>C (p.Glu253Asp)
c.2031G>C (p.Glu677Asp)
c.933G>C (p.Glu311Asp)
n.805G>C
n.6218G>C
c.2289G>C (p.Glu763Asp)
c.2196G>C (p.Glu732Asp)
c.2115G>C (p.Glu705Asp)
c.2091G>C (p.Glu697Asp)
c.1998G>C (p.Glu666Asp)
c.1224G>C (p.Glu408Asp)
c.1137G>C (p.Glu379Asp)
c.1050G>C (p.Glu350Asp)
c.771+4368G>C (n.771+4368G>C)
n.857G>C
17g.46018646G>TCA399983675MAPTc.939G>T (p.Glu313Asp)
c.852G>T (p.Glu284Asp)
c.1026G>T (p.Glu342Asp)
n.797G>T
n.252G>T
n.210G>T
n.444G>T
c.2202G>T (p.Glu734Asp)
c.1911G>T (p.Glu637Asp)
c.846G>T (p.Glu282Asp)
c.975G>T (p.Glu325Asp)
c.1977G>T (p.Glu659Asp)
c.759G>T (p.Glu253Asp)
c.2031G>T (p.Glu677Asp)
c.933G>T (p.Glu311Asp)
n.805G>T
n.6218G>T
c.2289G>T (p.Glu763Asp)
c.2196G>T (p.Glu732Asp)
c.2115G>T (p.Glu705Asp)
c.2091G>T (p.Glu697Asp)
c.1998G>T (p.Glu666Asp)
c.1224G>T (p.Glu408Asp)
c.1137G>T (p.Glu379Asp)
c.1050G>T (p.Glu350Asp)
c.771+4368G>T (n.771+4368G>T)
n.857G>T
17g.46018647A>CCA399983676MAPTc.940A>C (p.Lys314Gln)
c.853A>C (p.Lys285Gln)
c.1027A>C (p.Lys343Gln)
n.798A>C
n.253A>C
n.211A>C
n.445A>C
c.2203A>C (p.Lys735Gln)
c.1912A>C (p.Lys638Gln)
c.847A>C (p.Lys283Gln)
c.976A>C (p.Lys326Gln)
c.1978A>C (p.Lys660Gln)
c.760A>C (p.Lys254Gln)
c.2032A>C (p.Lys678Gln)
c.934A>C (p.Lys312Gln)
n.806A>C
n.6219A>C
c.2290A>C (p.Lys764Gln)
c.2197A>C (p.Lys733Gln)
c.2116A>C (p.Lys706Gln)
c.2092A>C (p.Lys698Gln)
c.1999A>C (p.Lys667Gln)
c.1225A>C (p.Lys409Gln)
c.1138A>C (p.Lys380Gln)
c.1051A>C (p.Lys351Gln)
c.771+4369A>C (n.771+4369A>C)
n.858A>C
17g.46018647A>GCA399983677MAPTc.940A>G (p.Lys314Glu)
c.853A>G (p.Lys285Glu)
c.1027A>G (p.Lys343Glu)
n.798A>G
n.253A>G
n.211A>G
n.445A>G
c.2203A>G (p.Lys735Glu)
c.1912A>G (p.Lys638Glu)
c.847A>G (p.Lys283Glu)
c.976A>G (p.Lys326Glu)
c.1978A>G (p.Lys660Glu)
c.760A>G (p.Lys254Glu)
c.2032A>G (p.Lys678Glu)
c.934A>G (p.Lys312Glu)
n.806A>G
n.6219A>G
c.2290A>G (p.Lys764Glu)
c.2197A>G (p.Lys733Glu)
c.2116A>G (p.Lys706Glu)
c.2092A>G (p.Lys698Glu)
c.1999A>G (p.Lys667Glu)
c.1225A>G (p.Lys409Glu)
c.1138A>G (p.Lys380Glu)
c.1051A>G (p.Lys351Glu)
c.771+4369A>G (n.771+4369A>G)
n.858A>G
 gnomAD v4
17g.46018647A>TCA399983678MAPTc.940A>T (p.Lys314Ter)
c.853A>T (p.Lys285Ter)
c.1027A>T (p.Lys343Ter)
n.798A>T
n.253A>T
n.211A>T
n.445A>T
c.2203A>T (p.Lys735Ter)
c.1912A>T (p.Lys638Ter)
c.847A>T (p.Lys283Ter)
c.976A>T (p.Lys326Ter)
c.1978A>T (p.Lys660Ter)
c.760A>T (p.Lys254Ter)
c.2032A>T (p.Lys678Ter)
c.934A>T (p.Lys312Ter)
n.806A>T
n.6219A>T
c.2290A>T (p.Lys764Ter)
c.2197A>T (p.Lys733Ter)
c.2116A>T (p.Lys706Ter)
c.2092A>T (p.Lys698Ter)
c.1999A>T (p.Lys667Ter)
c.1225A>T (p.Lys409Ter)
c.1138A>T (p.Lys380Ter)
c.1051A>T (p.Lys351Ter)
c.771+4369A>T (n.771+4369A>T)
n.858A>T
17g.46018648A>CCA399983679MAPTc.941A>C (p.Lys314Thr)
c.854A>C (p.Lys285Thr)
c.1028A>C (p.Lys343Thr)
n.799A>C
n.254A>C
n.212A>C
n.446A>C
c.2204A>C (p.Lys735Thr)
c.1913A>C (p.Lys638Thr)
c.848A>C (p.Lys283Thr)
c.977A>C (p.Lys326Thr)
c.1979A>C (p.Lys660Thr)
c.761A>C (p.Lys254Thr)
c.2033A>C (p.Lys678Thr)
c.935A>C (p.Lys312Thr)
n.807A>C
n.6220A>C
c.2291A>C (p.Lys764Thr)
c.2198A>C (p.Lys733Thr)
c.2117A>C (p.Lys706Thr)
c.2093A>C (p.Lys698Thr)
c.2000A>C (p.Lys667Thr)
c.1226A>C (p.Lys409Thr)
c.1139A>C (p.Lys380Thr)
c.1052A>C (p.Lys351Thr)
c.771+4370A>C (n.771+4370A>C)
n.859A>C
 gnomAD v4
17g.46018648A>GCA399983680MAPTc.941A>G (p.Lys314Arg)
c.854A>G (p.Lys285Arg)
c.1028A>G (p.Lys343Arg)
n.799A>G
n.254A>G
n.212A>G
n.446A>G
c.2204A>G (p.Lys735Arg)
c.1913A>G (p.Lys638Arg)
c.848A>G (p.Lys283Arg)
c.977A>G (p.Lys326Arg)
c.1979A>G (p.Lys660Arg)
c.761A>G (p.Lys254Arg)
c.2033A>G (p.Lys678Arg)
c.935A>G (p.Lys312Arg)
n.807A>G
n.6220A>G
c.2291A>G (p.Lys764Arg)
c.2198A>G (p.Lys733Arg)
c.2117A>G (p.Lys706Arg)
c.2093A>G (p.Lys698Arg)
c.2000A>G (p.Lys667Arg)
c.1226A>G (p.Lys409Arg)
c.1139A>G (p.Lys380Arg)
c.1052A>G (p.Lys351Arg)
c.771+4370A>G (n.771+4370A>G)
n.859A>G
17g.46018648A>TCA399983681MAPTc.941A>T (p.Lys314Met)
c.854A>T (p.Lys285Met)
c.1028A>T (p.Lys343Met)
n.799A>T
n.254A>T
n.212A>T
n.446A>T
c.2204A>T (p.Lys735Met)
c.1913A>T (p.Lys638Met)
c.848A>T (p.Lys283Met)
c.977A>T (p.Lys326Met)
c.1979A>T (p.Lys660Met)
c.761A>T (p.Lys254Met)
c.2033A>T (p.Lys678Met)
c.935A>T (p.Lys312Met)
n.807A>T
n.6220A>T
c.2291A>T (p.Lys764Met)
c.2198A>T (p.Lys733Met)
c.2117A>T (p.Lys706Met)
c.2093A>T (p.Lys698Met)
c.2000A>T (p.Lys667Met)
c.1226A>T (p.Lys409Met)
c.1139A>T (p.Lys380Met)
c.1052A>T (p.Lys351Met)
c.771+4370A>T (n.771+4370A>T)
n.859A>T
17g.46018649G>ACA500371243MAPTc.942G>A (p.Lys314=)
c.855G>A (p.Lys285=)
c.1029G>A (p.Lys343=)
n.800G>A
n.255G>A
n.213G>A
n.447G>A
c.2205G>A (p.Lys735=)
c.1914G>A (p.Lys638=)
c.849G>A (p.Lys283=)
c.978G>A (p.Lys326=)
c.1980G>A (p.Lys660=)
c.762G>A (p.Lys254=)
c.2034G>A (p.Lys678=)
c.936G>A (p.Lys312=)
n.808G>A
n.6221G>A
c.2292G>A (p.Lys764=)
c.2199G>A (p.Lys733=)
c.2118G>A (p.Lys706=)
c.2094G>A (p.Lys698=)
c.2001G>A (p.Lys667=)
c.1227G>A (p.Lys409=)
c.1140G>A (p.Lys380=)
c.1053G>A (p.Lys351=)
c.771+4371G>A (n.771+4371G>A)
n.860G>A
 ClinVar
17g.46018649G>CCA399983682MAPTc.942G>C (p.Lys314Asn)
c.855G>C (p.Lys285Asn)
c.1029G>C (p.Lys343Asn)
n.800G>C
n.255G>C
n.213G>C
n.447G>C
c.2205G>C (p.Lys735Asn)
c.1914G>C (p.Lys638Asn)
c.849G>C (p.Lys283Asn)
c.978G>C (p.Lys326Asn)
c.1980G>C (p.Lys660Asn)
c.762G>C (p.Lys254Asn)
c.2034G>C (p.Lys678Asn)
c.936G>C (p.Lys312Asn)
n.808G>C
n.6221G>C
c.2292G>C (p.Lys764Asn)
c.2199G>C (p.Lys733Asn)
c.2118G>C (p.Lys706Asn)
c.2094G>C (p.Lys698Asn)
c.2001G>C (p.Lys667Asn)
c.1227G>C (p.Lys409Asn)
c.1140G>C (p.Lys380Asn)
c.1053G>C (p.Lys351Asn)
c.771+4371G>C (n.771+4371G>C)
n.860G>C
17g.46018649G>TCA399983684MAPTc.942G>T (p.Lys314Asn)
c.855G>T (p.Lys285Asn)
c.1029G>T (p.Lys343Asn)
n.800G>T
n.255G>T
n.213G>T
n.447G>T
c.2205G>T (p.Lys735Asn)
c.1914G>T (p.Lys638Asn)
c.849G>T (p.Lys283Asn)
c.978G>T (p.Lys326Asn)
c.1980G>T (p.Lys660Asn)
c.762G>T (p.Lys254Asn)
c.2034G>T (p.Lys678Asn)
c.936G>T (p.Lys312Asn)
n.808G>T
n.6221G>T
c.2292G>T (p.Lys764Asn)
c.2199G>T (p.Lys733Asn)
c.2118G>T (p.Lys706Asn)
c.2094G>T (p.Lys698Asn)
c.2001G>T (p.Lys667Asn)
c.1227G>T (p.Lys409Asn)
c.1140G>T (p.Lys380Asn)
c.1053G>T (p.Lys351Asn)
c.771+4371G>T (n.771+4371G>T)
n.860G>T
17g.46018650C>ACA399983685MAPTc.943C>A (p.Leu315Ile)
c.856C>A (p.Leu286Ile)
c.1030C>A (p.Leu344Ile)
n.801C>A
n.256C>A
n.214C>A
n.448C>A
c.2206C>A (p.Leu736Ile)
c.1915C>A (p.Leu639Ile)
c.850C>A (p.Leu284Ile)
c.979C>A (p.Leu327Ile)
c.1981C>A (p.Leu661Ile)
c.763C>A (p.Leu255Ile)
c.2035C>A (p.Leu679Ile)
c.937C>A (p.Leu313Ile)
n.809C>A
n.6222C>A
c.2293C>A (p.Leu765Ile)
c.2200C>A (p.Leu734Ile)
c.2119C>A (p.Leu707Ile)
c.2095C>A (p.Leu699Ile)
c.2002C>A (p.Leu668Ile)
c.1228C>A (p.Leu410Ile)
c.1141C>A (p.Leu381Ile)
c.1054C>A (p.Leu352Ile)
c.771+4372C>A (n.771+4372C>A)
n.861C>A
17g.46018650C>GCA399983687MAPTc.943C>G (p.Leu315Val)
c.856C>G (p.Leu286Val)
c.1030C>G (p.Leu344Val)
n.801C>G
n.256C>G
n.214C>G
n.448C>G
c.2206C>G (p.Leu736Val)
c.1915C>G (p.Leu639Val)
c.850C>G (p.Leu284Val)
c.979C>G (p.Leu327Val)
c.1981C>G (p.Leu661Val)
c.763C>G (p.Leu255Val)
c.2035C>G (p.Leu679Val)
c.937C>G (p.Leu313Val)
n.809C>G
n.6222C>G
c.2293C>G (p.Leu765Val)
c.2200C>G (p.Leu734Val)
c.2119C>G (p.Leu707Val)
c.2095C>G (p.Leu699Val)
c.2002C>G (p.Leu668Val)
c.1228C>G (p.Leu410Val)
c.1141C>G (p.Leu381Val)
c.1054C>G (p.Leu352Val)
c.771+4372C>G (n.771+4372C>G)
n.861C>G
17g.46018650C>TCA399983686MAPTc.943C>T (p.Leu315Phe)
c.856C>T (p.Leu286Phe)
c.1030C>T (p.Leu344Phe)
n.801C>T
n.256C>T
n.214C>T
n.448C>T
c.2206C>T (p.Leu736Phe)
c.1915C>T (p.Leu639Phe)
c.850C>T (p.Leu284Phe)
c.979C>T (p.Leu327Phe)
c.1981C>T (p.Leu661Phe)
c.763C>T (p.Leu255Phe)
c.2035C>T (p.Leu679Phe)
c.937C>T (p.Leu313Phe)
n.809C>T
n.6222C>T
c.2293C>T (p.Leu765Phe)
c.2200C>T (p.Leu734Phe)
c.2119C>T (p.Leu707Phe)
c.2095C>T (p.Leu699Phe)
c.2002C>T (p.Leu668Phe)
c.1228C>T (p.Leu410Phe)
c.1141C>T (p.Leu381Phe)
c.1054C>T (p.Leu352Phe)
c.771+4372C>T (n.771+4372C>T)
n.861C>T
17g.46018651T>ACA399983688MAPTc.944T>A (p.Leu315His)
c.857T>A (p.Leu286His)
c.1031T>A (p.Leu344His)
n.802T>A
n.257T>A
n.215T>A
n.449T>A
c.2207T>A (p.Leu736His)
c.1916T>A (p.Leu639His)
c.851T>A (p.Leu284His)
c.980T>A (p.Leu327His)
c.1982T>A (p.Leu661His)
c.764T>A (p.Leu255His)
c.2036T>A (p.Leu679His)
c.938T>A (p.Leu313His)
n.810T>A
n.6223T>A
c.2294T>A (p.Leu765His)
c.2201T>A (p.Leu734His)
c.2120T>A (p.Leu707His)
c.2096T>A (p.Leu699His)
c.2003T>A (p.Leu668His)
c.1229T>A (p.Leu410His)
c.1142T>A (p.Leu381His)
c.1055T>A (p.Leu352His)
c.771+4373T>A (n.771+4373T>A)
n.862T>A
17g.46018651T>CCA399983690MAPTc.944T>C (p.Leu315Pro)
c.857T>C (p.Leu286Pro)
c.1031T>C (p.Leu344Pro)
n.802T>C
n.257T>C
n.215T>C
n.449T>C
c.2207T>C (p.Leu736Pro)
c.1916T>C (p.Leu639Pro)
c.851T>C (p.Leu284Pro)
c.980T>C (p.Leu327Pro)
c.1982T>C (p.Leu661Pro)
c.764T>C (p.Leu255Pro)
c.2036T>C (p.Leu679Pro)
c.938T>C (p.Leu313Pro)
n.810T>C
n.6223T>C
c.2294T>C (p.Leu765Pro)
c.2201T>C (p.Leu734Pro)
c.2120T>C (p.Leu707Pro)
c.2096T>C (p.Leu699Pro)
c.2003T>C (p.Leu668Pro)
c.1229T>C (p.Leu410Pro)
c.1142T>C (p.Leu381Pro)
c.1055T>C (p.Leu352Pro)
c.771+4373T>C (n.771+4373T>C)
n.862T>C
 gnomAD v4
17g.46018651T>GCA399983689MAPTc.944T>G (p.Leu315Arg)
c.857T>G (p.Leu286Arg)
c.1031T>G (p.Leu344Arg)
n.802T>G
n.257T>G
n.215T>G
n.449T>G
c.2207T>G (p.Leu736Arg)
c.1916T>G (p.Leu639Arg)
c.851T>G (p.Leu284Arg)
c.980T>G (p.Leu327Arg)
c.1982T>G (p.Leu661Arg)
c.764T>G (p.Leu255Arg)
c.2036T>G (p.Leu679Arg)
c.938T>G (p.Leu313Arg)
n.810T>G
n.6223T>G
c.2294T>G (p.Leu765Arg)
c.2201T>G (p.Leu734Arg)
c.2120T>G (p.Leu707Arg)
c.2096T>G (p.Leu699Arg)
c.2003T>G (p.Leu668Arg)
c.1229T>G (p.Leu410Arg)
c.1142T>G (p.Leu381Arg)
c.1055T>G (p.Leu352Arg)
c.771+4373T>G (n.771+4373T>G)
n.862T>G
17g.46018652T>ACA500371244MAPTc.945T>A (p.Leu315=)
c.858T>A (p.Leu286=)
c.1032T>A (p.Leu344=)
n.803T>A
n.258T>A
n.216T>A
n.450T>A
c.2208T>A (p.Leu736=)
c.1917T>A (p.Leu639=)
c.852T>A (p.Leu284=)
c.981T>A (p.Leu327=)
c.1983T>A (p.Leu661=)
c.765T>A (p.Leu255=)
c.2037T>A (p.Leu679=)
c.939T>A (p.Leu313=)
n.811T>A
n.6224T>A
c.2295T>A (p.Leu765=)
c.2202T>A (p.Leu734=)
c.2121T>A (p.Leu707=)
c.2097T>A (p.Leu699=)
c.2004T>A (p.Leu668=)
c.1230T>A (p.Leu410=)
c.1143T>A (p.Leu381=)
c.1056T>A (p.Leu352=)
c.771+4374T>A (n.771+4374T>A)
n.863T>A
 dbSNP
17g.46018652T>CCA291114676MAPTc.945T>C (p.Leu315=)
c.858T>C (p.Leu286=)
c.1032T>C (p.Leu344=)
n.803T>C
n.258T>C
n.216T>C
n.450T>C
c.2208T>C (p.Leu736=)
c.1917T>C (p.Leu639=)
c.852T>C (p.Leu284=)
c.981T>C (p.Leu327=)
c.1983T>C (p.Leu661=)
c.765T>C (p.Leu255=)
c.2037T>C (p.Leu679=)
c.939T>C (p.Leu313=)
n.811T>C
n.6224T>C
c.2295T>C (p.Leu765=)
c.2202T>C (p.Leu734=)
c.2121T>C (p.Leu707=)
c.2097T>C (p.Leu699=)
c.2004T>C (p.Leu668=)
c.1230T>C (p.Leu410=)
c.1143T>C (p.Leu381=)
c.1056T>C (p.Leu352=)
c.771+4374T>C (n.771+4374T>C)
n.863T>C
 dbSNP gnomAD v4
17g.46018652T>GCA500371245MAPTc.945T>G (p.Leu315=)
c.858T>G (p.Leu286=)
c.1032T>G (p.Leu344=)
n.803T>G
n.258T>G
n.216T>G
n.450T>G
c.2208T>G (p.Leu736=)
c.1917T>G (p.Leu639=)
c.852T>G (p.Leu284=)
c.981T>G (p.Leu327=)
c.1983T>G (p.Leu661=)
c.765T>G (p.Leu255=)
c.2037T>G (p.Leu679=)
c.939T>G (p.Leu313=)
n.811T>G
n.6224T>G
c.2295T>G (p.Leu765=)
c.2202T>G (p.Leu734=)
c.2121T>G (p.Leu707=)
c.2097T>G (p.Leu699=)
c.2004T>G (p.Leu668=)
c.1230T>G (p.Leu410=)
c.1143T>G (p.Leu381=)
c.1056T>G (p.Leu352=)
c.771+4374T>G (n.771+4374T>G)
n.863T>G
17g.46018652T=CA2262104731MAPTc.945T= (p.Leu315=)
c.858T= (p.Leu286=)
c.1032T= (p.Leu344=)
n.803T=
n.258T=
n.216T=
n.450T=
c.2208T= (p.Leu736=)
c.1917T= (p.Leu639=)
c.852T= (p.Leu284=)
c.981T= (p.Leu327=)
c.1983T= (p.Leu661=)
c.765T= (p.Leu255=)
c.2037T= (p.Leu679=)
c.939T= (p.Leu313=)
n.811T=
n.6224T=
c.2295T= (p.Leu765=)
c.2202T= (p.Leu734=)
c.2121T= (p.Leu707=)
c.2097T= (p.Leu699=)
c.2004T= (p.Leu668=)
c.1230T= (p.Leu410=)
c.1143T= (p.Leu381=)
c.1056T= (p.Leu352=)
c.771+4374T= (n.771+4374T=)
n.863T=
17g.46018653G>ACA399983692MAPTc.946G>A (p.Asp316Asn)
c.859G>A (p.Asp287Asn)
c.1033G>A (p.Asp345Asn)
n.804G>A
n.259G>A
n.217G>A
n.451G>A
c.2209G>A (p.Asp737Asn)
c.1918G>A (p.Asp640Asn)
c.853G>A (p.Asp285Asn)
c.982G>A (p.Asp328Asn)
c.1984G>A (p.Asp662Asn)
c.766G>A (p.Asp256Asn)
c.2038G>A (p.Asp680Asn)
c.940G>A (p.Asp314Asn)
n.812G>A
n.6225G>A
c.2296G>A (p.Asp766Asn)
c.2203G>A (p.Asp735Asn)
c.2122G>A (p.Asp708Asn)
c.2098G>A (p.Asp700Asn)
c.2005G>A (p.Asp669Asn)
c.1231G>A (p.Asp411Asn)
c.1144G>A (p.Asp382Asn)
c.1057G>A (p.Asp353Asn)
c.771+4375G>A (n.771+4375G>A)
n.864G>A
17g.46018653G>CCA399983691MAPTc.946G>C (p.Asp316His)
c.859G>C (p.Asp287His)
c.1033G>C (p.Asp345His)
n.804G>C
n.259G>C
n.217G>C
n.451G>C
c.2209G>C (p.Asp737His)
c.1918G>C (p.Asp640His)
c.853G>C (p.Asp285His)
c.982G>C (p.Asp328His)
c.1984G>C (p.Asp662His)
c.766G>C (p.Asp256His)
c.2038G>C (p.Asp680His)
c.940G>C (p.Asp314His)
n.812G>C
n.6225G>C
c.2296G>C (p.Asp766His)
c.2203G>C (p.Asp735His)
c.2122G>C (p.Asp708His)
c.2098G>C (p.Asp700His)
c.2005G>C (p.Asp669His)
c.1231G>C (p.Asp411His)
c.1144G>C (p.Asp382His)
c.1057G>C (p.Asp353His)
c.771+4375G>C (n.771+4375G>C)
n.864G>C
17g.46018653G>TCA399983693MAPTc.946G>T (p.Asp316Tyr)
c.859G>T (p.Asp287Tyr)
c.1033G>T (p.Asp345Tyr)
n.804G>T
n.259G>T
n.217G>T
n.451G>T
c.2209G>T (p.Asp737Tyr)
c.1918G>T (p.Asp640Tyr)
c.853G>T (p.Asp285Tyr)
c.982G>T (p.Asp328Tyr)
c.1984G>T (p.Asp662Tyr)
c.766G>T (p.Asp256Tyr)
c.2038G>T (p.Asp680Tyr)
c.940G>T (p.Asp314Tyr)
n.812G>T
n.6225G>T
c.2296G>T (p.Asp766Tyr)
c.2203G>T (p.Asp735Tyr)
c.2122G>T (p.Asp708Tyr)
c.2098G>T (p.Asp700Tyr)
c.2005G>T (p.Asp669Tyr)
c.1231G>T (p.Asp411Tyr)
c.1144G>T (p.Asp382Tyr)
c.1057G>T (p.Asp353Tyr)
c.771+4375G>T (n.771+4375G>T)
n.864G>T
17g.46018654A>CCA399983694MAPTc.947A>C (p.Asp316Ala)
c.860A>C (p.Asp287Ala)
c.1034A>C (p.Asp345Ala)
n.805A>C
n.260A>C
n.218A>C
n.452A>C
c.2210A>C (p.Asp737Ala)
c.1919A>C (p.Asp640Ala)
c.854A>C (p.Asp285Ala)
c.983A>C (p.Asp328Ala)
c.1985A>C (p.Asp662Ala)
c.767A>C (p.Asp256Ala)
c.2039A>C (p.Asp680Ala)
c.941A>C (p.Asp314Ala)
n.813A>C
n.6226A>C
c.2297A>C (p.Asp766Ala)
c.2204A>C (p.Asp735Ala)
c.2123A>C (p.Asp708Ala)
c.2099A>C (p.Asp700Ala)
c.2006A>C (p.Asp669Ala)
c.1232A>C (p.Asp411Ala)
c.1145A>C (p.Asp382Ala)
c.1058A>C (p.Asp353Ala)
c.771+4376A>C (n.771+4376A>C)
n.865A>C
17g.46018654A>GCA399983696MAPTc.947A>G (p.Asp316Gly)
c.860A>G (p.Asp287Gly)
c.1034A>G (p.Asp345Gly)
n.805A>G
n.260A>G
n.218A>G
n.452A>G
c.2210A>G (p.Asp737Gly)
c.1919A>G (p.Asp640Gly)
c.854A>G (p.Asp285Gly)
c.983A>G (p.Asp328Gly)
c.1985A>G (p.Asp662Gly)
c.767A>G (p.Asp256Gly)
c.2039A>G (p.Asp680Gly)
c.941A>G (p.Asp314Gly)
n.813A>G
n.6226A>G
c.2297A>G (p.Asp766Gly)
c.2204A>G (p.Asp735Gly)
c.2123A>G (p.Asp708Gly)
c.2099A>G (p.Asp700Gly)
c.2006A>G (p.Asp669Gly)
c.1232A>G (p.Asp411Gly)
c.1145A>G (p.Asp382Gly)
c.1058A>G (p.Asp353Gly)
c.771+4376A>G (n.771+4376A>G)
n.865A>G
17g.46018654A>TCA399983695MAPTc.947A>T (p.Asp316Val)
c.860A>T (p.Asp287Val)
c.1034A>T (p.Asp345Val)
n.805A>T
n.260A>T
n.218A>T
n.452A>T
c.2210A>T (p.Asp737Val)
c.1919A>T (p.Asp640Val)
c.854A>T (p.Asp285Val)
c.983A>T (p.Asp328Val)
c.1985A>T (p.Asp662Val)
c.767A>T (p.Asp256Val)
c.2039A>T (p.Asp680Val)
c.941A>T (p.Asp314Val)
n.813A>T
n.6226A>T
c.2297A>T (p.Asp766Val)
c.2204A>T (p.Asp735Val)
c.2123A>T (p.Asp708Val)
c.2099A>T (p.Asp700Val)
c.2006A>T (p.Asp669Val)
c.1232A>T (p.Asp411Val)
c.1145A>T (p.Asp382Val)
c.1058A>T (p.Asp353Val)
c.771+4376A>T (n.771+4376A>T)
n.865A>T
17g.46018655C>ACA399983697MAPTc.948C>A (p.Asp316Glu)
c.861C>A (p.Asp287Glu)
c.1035C>A (p.Asp345Glu)
n.806C>A
n.261C>A
n.219C>A
n.453C>A
c.2211C>A (p.Asp737Glu)
c.1920C>A (p.Asp640Glu)
c.855C>A (p.Asp285Glu)
c.984C>A (p.Asp328Glu)
c.1986C>A (p.Asp662Glu)
c.768C>A (p.Asp256Glu)
c.2040C>A (p.Asp680Glu)
c.942C>A (p.Asp314Glu)
n.814C>A
n.6227C>A
c.2298C>A (p.Asp766Glu)
c.2205C>A (p.Asp735Glu)
c.2124C>A (p.Asp708Glu)
c.2100C>A (p.Asp700Glu)
c.2007C>A (p.Asp669Glu)
c.1233C>A (p.Asp411Glu)
c.1146C>A (p.Asp382Glu)
c.1059C>A (p.Asp353Glu)
c.771+4377C>A (n.771+4377C>A)
n.866C>A
17g.46018655C=CA2262104732MAPTc.948C= (p.Asp316=)
c.861C= (p.Asp287=)
c.1035C= (p.Asp345=)
n.806C=
n.261C=
n.219C=
n.453C=
c.2211C= (p.Asp737=)
c.1920C= (p.Asp640=)
c.855C= (p.Asp285=)
c.984C= (p.Asp328=)
c.1986C= (p.Asp662=)
c.768C= (p.Asp256=)
c.2040C= (p.Asp680=)
c.942C= (p.Asp314=)
n.814C=
n.6227C=
c.2298C= (p.Asp766=)
c.2205C= (p.Asp735=)
c.2124C= (p.Asp708=)
c.2100C= (p.Asp700=)
c.2007C= (p.Asp669=)
c.1233C= (p.Asp411=)
c.1146C= (p.Asp382=)
c.1059C= (p.Asp353=)
c.771+4377C= (n.771+4377C=)
n.866C=
17g.46018655C>GCA399983698MAPTc.948C>G (p.Asp316Glu)
c.861C>G (p.Asp287Glu)
c.1035C>G (p.Asp345Glu)
n.806C>G
n.261C>G
n.219C>G
n.453C>G
c.2211C>G (p.Asp737Glu)
c.1920C>G (p.Asp640Glu)
c.855C>G (p.Asp285Glu)
c.984C>G (p.Asp328Glu)
c.1986C>G (p.Asp662Glu)
c.768C>G (p.Asp256Glu)
c.2040C>G (p.Asp680Glu)
c.942C>G (p.Asp314Glu)
n.814C>G
n.6227C>G
c.2298C>G (p.Asp766Glu)
c.2205C>G (p.Asp735Glu)
c.2124C>G (p.Asp708Glu)
c.2100C>G (p.Asp700Glu)
c.2007C>G (p.Asp669Glu)
c.1233C>G (p.Asp411Glu)
c.1146C>G (p.Asp382Glu)
c.1059C>G (p.Asp353Glu)
c.771+4377C>G (n.771+4377C>G)
n.866C>G
17g.46018655C>TCA500371246MAPTc.948C>T (p.Asp316=)
c.861C>T (p.Asp287=)
c.1035C>T (p.Asp345=)
n.806C>T
n.261C>T
n.219C>T
n.453C>T
c.2211C>T (p.Asp737=)
c.1920C>T (p.Asp640=)
c.855C>T (p.Asp285=)
c.984C>T (p.Asp328=)
c.1986C>T (p.Asp662=)
c.768C>T (p.Asp256=)
c.2040C>T (p.Asp680=)
c.942C>T (p.Asp314=)
n.814C>T
n.6227C>T
c.2298C>T (p.Asp766=)
c.2205C>T (p.Asp735=)
c.2124C>T (p.Asp708=)
c.2100C>T (p.Asp700=)
c.2007C>T (p.Asp669=)
c.1233C>T (p.Asp411=)
c.1146C>T (p.Asp382=)
c.1059C>T (p.Asp353=)
c.771+4377C>T (n.771+4377C>T)
n.866C>T
 dbSNP gnomAD v3 gnomAD v4
17g.46018656T>ACA399983699MAPTc.949T>A (p.Phe317Ile)
c.862T>A (p.Phe288Ile)
c.1036T>A (p.Phe346Ile)
n.807T>A
n.262T>A
n.220T>A
n.454T>A
c.2212T>A (p.Phe738Ile)
c.1921T>A (p.Phe641Ile)
c.856T>A (p.Phe286Ile)
c.985T>A (p.Phe329Ile)
c.1987T>A (p.Phe663Ile)
c.769T>A (p.Phe257Ile)
c.2041T>A (p.Phe681Ile)
c.943T>A (p.Phe315Ile)
n.815T>A
n.6228T>A
c.2299T>A (p.Phe767Ile)
c.2206T>A (p.Phe736Ile)
c.2125T>A (p.Phe709Ile)
c.2101T>A (p.Phe701Ile)
c.2008T>A (p.Phe670Ile)
c.1234T>A (p.Phe412Ile)
c.1147T>A (p.Phe383Ile)
c.1060T>A (p.Phe354Ile)
c.771+4378T>A (n.771+4378T>A)
n.867T>A
17g.46018656T>CCA399983700MAPTc.949T>C (p.Phe317Leu)
c.862T>C (p.Phe288Leu)
c.1036T>C (p.Phe346Leu)
n.807T>C
n.262T>C
n.220T>C
n.454T>C
c.2212T>C (p.Phe738Leu)
c.1921T>C (p.Phe641Leu)
c.856T>C (p.Phe286Leu)
c.985T>C (p.Phe329Leu)
c.1987T>C (p.Phe663Leu)
c.769T>C (p.Phe257Leu)
c.2041T>C (p.Phe681Leu)
c.943T>C (p.Phe315Leu)
n.815T>C
n.6228T>C
c.2299T>C (p.Phe767Leu)
c.2206T>C (p.Phe736Leu)
c.2125T>C (p.Phe709Leu)
c.2101T>C (p.Phe701Leu)
c.2008T>C (p.Phe670Leu)
c.1234T>C (p.Phe412Leu)
c.1147T>C (p.Phe383Leu)
c.1060T>C (p.Phe354Leu)
c.771+4378T>C (n.771+4378T>C)
n.867T>C
17g.46018656T>GCA399983701MAPTc.949T>G (p.Phe317Val)
c.862T>G (p.Phe288Val)
c.1036T>G (p.Phe346Val)
n.807T>G
n.262T>G
n.220T>G
n.454T>G
c.2212T>G (p.Phe738Val)
c.1921T>G (p.Phe641Val)
c.856T>G (p.Phe286Val)
c.985T>G (p.Phe329Val)
c.1987T>G (p.Phe663Val)
c.769T>G (p.Phe257Val)
c.2041T>G (p.Phe681Val)
c.943T>G (p.Phe315Val)
n.815T>G
n.6228T>G
c.2299T>G (p.Phe767Val)
c.2206T>G (p.Phe736Val)
c.2125T>G (p.Phe709Val)
c.2101T>G (p.Phe701Val)
c.2008T>G (p.Phe670Val)
c.1234T>G (p.Phe412Val)
c.1147T>G (p.Phe383Val)
c.1060T>G (p.Phe354Val)
c.771+4378T>G (n.771+4378T>G)
n.867T>G
17g.46018657T>ACA399983702MAPTc.950T>A (p.Phe317Tyr)
c.863T>A (p.Phe288Tyr)
c.1037T>A (p.Phe346Tyr)
n.808T>A
n.263T>A
n.221T>A
n.455T>A
c.2213T>A (p.Phe738Tyr)
c.1922T>A (p.Phe641Tyr)
c.857T>A (p.Phe286Tyr)
c.986T>A (p.Phe329Tyr)
c.1988T>A (p.Phe663Tyr)
c.770T>A (p.Phe257Tyr)
c.2042T>A (p.Phe681Tyr)
c.944T>A (p.Phe315Tyr)
n.816T>A
n.6229T>A
c.2300T>A (p.Phe767Tyr)
c.2207T>A (p.Phe736Tyr)
c.2126T>A (p.Phe709Tyr)
c.2102T>A (p.Phe701Tyr)
c.2009T>A (p.Phe670Tyr)
c.1235T>A (p.Phe412Tyr)
c.1148T>A (p.Phe383Tyr)
c.1061T>A (p.Phe354Tyr)
c.771+4379T>A (n.771+4379T>A)
n.868T>A
17g.46018657T>CCA399983703MAPTc.950T>C (p.Phe317Ser)
c.863T>C (p.Phe288Ser)
c.1037T>C (p.Phe346Ser)
n.808T>C
n.263T>C
n.221T>C
n.455T>C
c.2213T>C (p.Phe738Ser)
c.1922T>C (p.Phe641Ser)
c.857T>C (p.Phe286Ser)
c.986T>C (p.Phe329Ser)
c.1988T>C (p.Phe663Ser)
c.770T>C (p.Phe257Ser)
c.2042T>C (p.Phe681Ser)
c.944T>C (p.Phe315Ser)
n.816T>C
n.6229T>C
c.2300T>C (p.Phe767Ser)
c.2207T>C (p.Phe736Ser)
c.2126T>C (p.Phe709Ser)
c.2102T>C (p.Phe701Ser)
c.2009T>C (p.Phe670Ser)
c.1235T>C (p.Phe412Ser)
c.1148T>C (p.Phe383Ser)
c.1061T>C (p.Phe354Ser)
c.771+4379T>C (n.771+4379T>C)
n.868T>C
17g.46018657T>GCA399983704MAPTc.950T>G (p.Phe317Cys)
c.863T>G (p.Phe288Cys)
c.1037T>G (p.Phe346Cys)
n.808T>G
n.263T>G
n.221T>G
n.455T>G
c.2213T>G (p.Phe738Cys)
c.1922T>G (p.Phe641Cys)
c.857T>G (p.Phe286Cys)
c.986T>G (p.Phe329Cys)
c.1988T>G (p.Phe663Cys)
c.770T>G (p.Phe257Cys)
c.2042T>G (p.Phe681Cys)
c.944T>G (p.Phe315Cys)
n.816T>G
n.6229T>G
c.2300T>G (p.Phe767Cys)
c.2207T>G (p.Phe736Cys)
c.2126T>G (p.Phe709Cys)
c.2102T>G (p.Phe701Cys)
c.2009T>G (p.Phe670Cys)
c.1235T>G (p.Phe412Cys)
c.1148T>G (p.Phe383Cys)
c.1061T>G (p.Phe354Cys)
c.771+4379T>G (n.771+4379T>G)
n.868T>G
17g.46018658C>ACA399983705MAPTc.951C>A (p.Phe317Leu)
c.864C>A (p.Phe288Leu)
c.1038C>A (p.Phe346Leu)
n.809C>A
n.264C>A
n.222C>A
n.456C>A
c.2214C>A (p.Phe738Leu)
c.1923C>A (p.Phe641Leu)
c.858C>A (p.Phe286Leu)
c.987C>A (p.Phe329Leu)
c.1989C>A (p.Phe663Leu)
c.771C>A (p.Phe257Leu)
c.2043C>A (p.Phe681Leu)
c.945C>A (p.Phe315Leu)
n.817C>A
n.6230C>A
c.2301C>A (p.Phe767Leu)
c.2208C>A (p.Phe736Leu)
c.2127C>A (p.Phe709Leu)
c.2103C>A (p.Phe701Leu)
c.2010C>A (p.Phe670Leu)
c.1236C>A (p.Phe412Leu)
c.1149C>A (p.Phe383Leu)
c.1062C>A (p.Phe354Leu)
c.771+4380C>A (n.771+4380C>A)
n.869C>A
17g.46018658C>GCA399983706MAPTc.951C>G (p.Phe317Leu)
c.864C>G (p.Phe288Leu)
c.1038C>G (p.Phe346Leu)
n.809C>G
n.264C>G
n.222C>G
n.456C>G
c.2214C>G (p.Phe738Leu)
c.1923C>G (p.Phe641Leu)
c.858C>G (p.Phe286Leu)
c.987C>G (p.Phe329Leu)
c.1989C>G (p.Phe663Leu)
c.771C>G (p.Phe257Leu)
c.2043C>G (p.Phe681Leu)
c.945C>G (p.Phe315Leu)
n.817C>G
n.6230C>G
c.2301C>G (p.Phe767Leu)
c.2208C>G (p.Phe736Leu)
c.2127C>G (p.Phe709Leu)
c.2103C>G (p.Phe701Leu)
c.2010C>G (p.Phe670Leu)
c.1236C>G (p.Phe412Leu)
c.1149C>G (p.Phe383Leu)
c.1062C>G (p.Phe354Leu)
c.771+4380C>G (n.771+4380C>G)
n.869C>G
17g.46018658C>TCA500371247MAPTc.951C>T (p.Phe317=)
c.864C>T (p.Phe288=)
c.1038C>T (p.Phe346=)
n.809C>T
n.264C>T
n.222C>T
n.456C>T
c.2214C>T (p.Phe738=)
c.1923C>T (p.Phe641=)
c.858C>T (p.Phe286=)
c.987C>T (p.Phe329=)
c.1989C>T (p.Phe663=)
c.771C>T (p.Phe257=)
c.2043C>T (p.Phe681=)
c.945C>T (p.Phe315=)
n.817C>T
n.6230C>T
c.2301C>T (p.Phe767=)
c.2208C>T (p.Phe736=)
c.2127C>T (p.Phe709=)
c.2103C>T (p.Phe701=)
c.2010C>T (p.Phe670=)
c.1236C>T (p.Phe412=)
c.1149C>T (p.Phe383=)
c.1062C>T (p.Phe354=)
c.771+4380C>T (n.771+4380C>T)
n.869C>T
17g.46018659A>CCA399983707MAPTc.952A>C (p.Lys318Gln)
c.865A>C (p.Lys289Gln)
c.1039A>C (p.Lys347Gln)
n.810A>C
n.265A>C
n.223A>C
n.457A>C
c.2215A>C (p.Lys739Gln)
c.1924A>C (p.Lys642Gln)
c.859A>C (p.Lys287Gln)
c.988A>C (p.Lys330Gln)
c.1990A>C (p.Lys664Gln)
c.772A>C (p.Lys258Gln)
c.2044A>C (p.Lys682Gln)
c.946A>C (p.Lys316Gln)
n.818A>C
n.6231A>C
c.2302A>C (p.Lys768Gln)
c.2209A>C (p.Lys737Gln)
c.2128A>C (p.Lys710Gln)
c.2104A>C (p.Lys702Gln)
c.2011A>C (p.Lys671Gln)
c.1237A>C (p.Lys413Gln)
c.1150A>C (p.Lys384Gln)
c.1063A>C (p.Lys355Gln)
c.771+4381A>C (n.771+4381A>C)
n.870A>C
17g.46018659A>GCA399983708MAPTc.952A>G (p.Lys318Glu)
c.865A>G (p.Lys289Glu)
c.1039A>G (p.Lys347Glu)
n.810A>G
n.265A>G
n.223A>G
n.457A>G
c.2215A>G (p.Lys739Glu)
c.1924A>G (p.Lys642Glu)
c.859A>G (p.Lys287Glu)
c.988A>G (p.Lys330Glu)
c.1990A>G (p.Lys664Glu)
c.772A>G (p.Lys258Glu)
c.2044A>G (p.Lys682Glu)
c.946A>G (p.Lys316Glu)
n.818A>G
n.6231A>G
c.2302A>G (p.Lys768Glu)
c.2209A>G (p.Lys737Glu)
c.2128A>G (p.Lys710Glu)
c.2104A>G (p.Lys702Glu)
c.2011A>G (p.Lys671Glu)
c.1237A>G (p.Lys413Glu)
c.1150A>G (p.Lys384Glu)
c.1063A>G (p.Lys355Glu)
c.771+4381A>G (n.771+4381A>G)
n.870A>G
17g.46018659A>TCA399983709MAPTc.952A>T (p.Lys318Ter)
c.865A>T (p.Lys289Ter)
c.1039A>T (p.Lys347Ter)
n.810A>T
n.265A>T
n.223A>T
n.457A>T
c.2215A>T (p.Lys739Ter)
c.1924A>T (p.Lys642Ter)
c.859A>T (p.Lys287Ter)
c.988A>T (p.Lys330Ter)
c.1990A>T (p.Lys664Ter)
c.772A>T (p.Lys258Ter)
c.2044A>T (p.Lys682Ter)
c.946A>T (p.Lys316Ter)
n.818A>T
n.6231A>T
c.2302A>T (p.Lys768Ter)
c.2209A>T (p.Lys737Ter)
c.2128A>T (p.Lys710Ter)
c.2104A>T (p.Lys702Ter)
c.2011A>T (p.Lys671Ter)
c.1237A>T (p.Lys413Ter)
c.1150A>T (p.Lys384Ter)
c.1063A>T (p.Lys355Ter)
c.771+4381A>T (n.771+4381A>T)
n.870A>T
17g.46018660A=CA2262104734MAPTc.953A= (p.Lys318=)
c.866A= (p.Lys289=)
c.1040A= (p.Lys347=)
n.811A=
n.266A=
n.224A=
n.458A=
c.2216A= (p.Lys739=)
c.1925A= (p.Lys642=)
c.860A= (p.Lys287=)
c.989A= (p.Lys330=)
c.1991A= (p.Lys664=)
c.773A= (p.Lys258=)
c.2045A= (p.Lys682=)
c.947A= (p.Lys316=)
n.819A=
n.6232A=
c.2303A= (p.Lys768=)
c.2210A= (p.Lys737=)
c.2129A= (p.Lys710=)
c.2105A= (p.Lys702=)
c.2012A= (p.Lys671=)
c.1238A= (p.Lys413=)
c.1151A= (p.Lys384=)
c.1064A= (p.Lys355=)
c.771+4382A= (n.771+4382A=)
n.871A=
17g.46018660A>CCA399983712MAPTc.953A>C (p.Lys318Thr)
c.866A>C (p.Lys289Thr)
c.1040A>C (p.Lys347Thr)
n.811A>C
n.266A>C
n.224A>C
n.458A>C
c.2216A>C (p.Lys739Thr)
c.1925A>C (p.Lys642Thr)
c.860A>C (p.Lys287Thr)
c.989A>C (p.Lys330Thr)
c.1991A>C (p.Lys664Thr)
c.773A>C (p.Lys258Thr)
c.2045A>C (p.Lys682Thr)
c.947A>C (p.Lys316Thr)
n.819A>C
n.6232A>C
c.2303A>C (p.Lys768Thr)
c.2210A>C (p.Lys737Thr)
c.2129A>C (p.Lys710Thr)
c.2105A>C (p.Lys702Thr)
c.2012A>C (p.Lys671Thr)
c.1238A>C (p.Lys413Thr)
c.1151A>C (p.Lys384Thr)
c.1064A>C (p.Lys355Thr)
c.771+4382A>C (n.771+4382A>C)
n.871A>C
17g.46018660A>GCA399983711MAPTc.953A>G (p.Lys318Arg)
c.866A>G (p.Lys289Arg)
c.1040A>G (p.Lys347Arg)
n.811A>G
n.266A>G
n.224A>G
n.458A>G
c.2216A>G (p.Lys739Arg)
c.1925A>G (p.Lys642Arg)
c.860A>G (p.Lys287Arg)
c.989A>G (p.Lys330Arg)
c.1991A>G (p.Lys664Arg)
c.773A>G (p.Lys258Arg)
c.2045A>G (p.Lys682Arg)
c.947A>G (p.Lys316Arg)
n.819A>G
n.6232A>G
c.2303A>G (p.Lys768Arg)
c.2210A>G (p.Lys737Arg)
c.2129A>G (p.Lys710Arg)
c.2105A>G (p.Lys702Arg)
c.2012A>G (p.Lys671Arg)
c.1238A>G (p.Lys413Arg)
c.1151A>G (p.Lys384Arg)
c.1064A>G (p.Lys355Arg)
c.771+4382A>G (n.771+4382A>G)
n.871A>G
 dbSNP gnomAD v4
17g.46018660A>TCA399983710MAPTc.953A>T (p.Lys318Met)
c.866A>T (p.Lys289Met)
c.1040A>T (p.Lys347Met)
n.811A>T
n.266A>T
n.224A>T
n.458A>T
c.2216A>T (p.Lys739Met)
c.1925A>T (p.Lys642Met)
c.860A>T (p.Lys287Met)
c.989A>T (p.Lys330Met)
c.1991A>T (p.Lys664Met)
c.773A>T (p.Lys258Met)
c.2045A>T (p.Lys682Met)
c.947A>T (p.Lys316Met)
n.819A>T
n.6232A>T
c.2303A>T (p.Lys768Met)
c.2210A>T (p.Lys737Met)
c.2129A>T (p.Lys710Met)
c.2105A>T (p.Lys702Met)
c.2012A>T (p.Lys671Met)
c.1238A>T (p.Lys413Met)
c.1151A>T (p.Lys384Met)
c.1064A>T (p.Lys355Met)
c.771+4382A>T (n.771+4382A>T)
n.871A>T
17g.46018660_46018679delinsAGGACAGAGTCCAGTCGAAGCA2262104733MAPTc.953_972delinsAGGACAGAGTCCAGTCGAAG (p.Lys318=)
c.866_885delinsAGGACAGAGTCCAGTCGAAG (p.Lys289=)
c.1040_1059delinsAGGACAGAGTCCAGTCGAAG (p.Lys347=)
n.811_830delinsAGGACAGAGTCCAGTCGAAG
n.266_285delinsAGGACAGAGTCCAGTCGAAG
n.224_243delinsAGGACAGAGTCCAGTCGAAG
n.458_477delinsAGGACAGAGTCCAGTCGAAG
c.2216_2235delinsAGGACAGAGTCCAGTCGAAG (p.Lys739=)
c.1925_1944delinsAGGACAGAGTCCAGTCGAAG (p.Lys642=)
c.860_879delinsAGGACAGAGTCCAGTCGAAG (p.Lys287=)
c.989_1008delinsAGGACAGAGTCCAGTCGAAG (p.Lys330=)
c.1991_2010delinsAGGACAGAGTCCAGTCGAAG (p.Lys664=)
c.773_792delinsAGGACAGAGTCCAGTCGAAG (p.Lys258=)
c.2045_2064delinsAGGACAGAGTCCAGTCGAAG (p.Lys682=)
c.947_966delinsAGGACAGAGTCCAGTCGAAG (p.Lys316=)
n.819_838delinsAGGACAGAGTCCAGTCGAAG
n.6232_6251delinsAGGACAGAGTCCAGTCGAAG
c.2303_2322delinsAGGACAGAGTCCAGTCGAAG (p.Lys768=)
c.2210_2229delinsAGGACAGAGTCCAGTCGAAG (p.Lys737=)
c.2129_2148delinsAGGACAGAGTCCAGTCGAAG (p.Lys710=)
c.2105_2124delinsAGGACAGAGTCCAGTCGAAG (p.Lys702=)
c.2012_2031delinsAGGACAGAGTCCAGTCGAAG (p.Lys671=)
c.1238_1257delinsAGGACAGAGTCCAGTCGAAG (p.Lys413=)
c.1151_1170delinsAGGACAGAGTCCAGTCGAAG (p.Lys384=)
c.1064_1083delinsAGGACAGAGTCCAGTCGAAG (p.Lys355=)
c.771+4382_771+4401delinsAGGACAGAGTCCAGTCGAAG (n.771+4382_771+4401delinsAGGACAGAGTCCAGTCGAAG)
n.871_890delinsAGGACAGAGTCCAGTCGAAG
17g.46018661G>ACA500371248MAPTc.954G>A (p.Lys318=)
c.867G>A (p.Lys289=)
c.1041G>A (p.Lys347=)
n.812G>A
n.267G>A
n.225G>A
n.459G>A
c.2217G>A (p.Lys739=)
c.1926G>A (p.Lys642=)
c.861G>A (p.Lys287=)
c.990G>A (p.Lys330=)
c.1992G>A (p.Lys664=)
c.774G>A (p.Lys258=)
c.2046G>A (p.Lys682=)
c.948G>A (p.Lys316=)
n.820G>A
n.6233G>A
c.2304G>A (p.Lys768=)
c.2211G>A (p.Lys737=)
c.2130G>A (p.Lys710=)
c.2106G>A (p.Lys702=)
c.2013G>A (p.Lys671=)
c.1239G>A (p.Lys413=)
c.1152G>A (p.Lys384=)
c.1065G>A (p.Lys355=)
c.771+4383G>A (n.771+4383G>A)
n.872G>A
17g.46018661G>CCA399983713MAPTc.954G>C (p.Lys318Asn)
c.867G>C (p.Lys289Asn)
c.1041G>C (p.Lys347Asn)
n.812G>C
n.267G>C
n.225G>C
n.459G>C
c.2217G>C (p.Lys739Asn)
c.1926G>C (p.Lys642Asn)
c.861G>C (p.Lys287Asn)
c.990G>C (p.Lys330Asn)
c.1992G>C (p.Lys664Asn)
c.774G>C (p.Lys258Asn)
c.2046G>C (p.Lys682Asn)
c.948G>C (p.Lys316Asn)
n.820G>C
n.6233G>C
c.2304G>C (p.Lys768Asn)
c.2211G>C (p.Lys737Asn)
c.2130G>C (p.Lys710Asn)
c.2106G>C (p.Lys702Asn)
c.2013G>C (p.Lys671Asn)
c.1239G>C (p.Lys413Asn)
c.1152G>C (p.Lys384Asn)
c.1065G>C (p.Lys355Asn)
c.771+4383G>C (n.771+4383G>C)
n.872G>C
17g.46018661G>TCA399983714MAPTc.954G>T (p.Lys318Asn)
c.867G>T (p.Lys289Asn)
c.1041G>T (p.Lys347Asn)
n.812G>T
n.267G>T
n.225G>T
n.459G>T
c.2217G>T (p.Lys739Asn)
c.1926G>T (p.Lys642Asn)
c.861G>T (p.Lys287Asn)
c.990G>T (p.Lys330Asn)
c.1992G>T (p.Lys664Asn)
c.774G>T (p.Lys258Asn)
c.2046G>T (p.Lys682Asn)
c.948G>T (p.Lys316Asn)
n.820G>T
n.6233G>T
c.2304G>T (p.Lys768Asn)
c.2211G>T (p.Lys737Asn)
c.2130G>T (p.Lys710Asn)
c.2106G>T (p.Lys702Asn)
c.2013G>T (p.Lys671Asn)
c.1239G>T (p.Lys413Asn)
c.1152G>T (p.Lys384Asn)
c.1065G>T (p.Lys355Asn)
c.771+4383G>T (n.771+4383G>T)
n.872G>T
17g.46018661_46018679delCA8618224MAPTc.954_972del (p.Asp319LeufsTer23)
c.867_885del (p.Asp290LeufsTer23)
c.1041_1059del (p.Asp348LeufsTer23)
n.812_830del
n.267_285del
n.225_243del
n.459_477del
c.2217_2235del (p.Asp740LeufsTer23)
c.1926_1944del (p.Asp643LeufsTer23)
c.861_879del (p.Asp288LeufsTer23)
c.990_1008del (p.Asp331LeufsTer23)
c.1992_2010del (p.Asp665LeufsTer23)
c.774_792del (p.Asp259LeufsTer23)
c.2046_2064del (p.Asp683LeufsTer23)
c.948_966del (p.Asp317LeufsTer23)
n.820_838del
n.6233_6251del
c.2304_2322del (p.Asp769LeufsTer23)
c.2211_2229del (p.Asp738LeufsTer23)
c.2130_2148del (p.Asp711LeufsTer23)
c.2106_2124del (p.Asp703LeufsTer23)
c.2013_2031del (p.Asp672LeufsTer23)
c.1239_1257del (p.Asp414LeufsTer23)
c.1152_1170del (p.Asp385LeufsTer23)
c.1065_1083del (p.Asp356LeufsTer23)
c.771+4383_771+4401del (n.771+4383_771+4401del)
n.872_890del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46018662G>ACA399983715MAPTc.955G>A (p.Asp319Asn)
c.868G>A (p.Asp290Asn)
c.1042G>A (p.Asp348Asn)
n.813G>A
n.268G>A
n.226G>A
n.460G>A
c.2218G>A (p.Asp740Asn)
c.1927G>A (p.Asp643Asn)
c.862G>A (p.Asp288Asn)
c.991G>A (p.Asp331Asn)
c.1993G>A (p.Asp665Asn)
c.775G>A (p.Asp259Asn)
c.2047G>A (p.Asp683Asn)
c.949G>A (p.Asp317Asn)
n.821G>A
n.6234G>A
c.2305G>A (p.Asp769Asn)
c.2212G>A (p.Asp738Asn)
c.2131G>A (p.Asp711Asn)
c.2107G>A (p.Asp703Asn)
c.2014G>A (p.Asp672Asn)
c.1240G>A (p.Asp414Asn)
c.1153G>A (p.Asp385Asn)
c.1066G>A (p.Asp356Asn)
c.771+4384G>A (n.771+4384G>A)
n.873G>A
17g.46018662G>CCA399983716MAPTc.955G>C (p.Asp319His)
c.868G>C (p.Asp290His)
c.1042G>C (p.Asp348His)
n.813G>C
n.268G>C
n.226G>C
n.460G>C
c.2218G>C (p.Asp740His)
c.1927G>C (p.Asp643His)
c.862G>C (p.Asp288His)
c.991G>C (p.Asp331His)
c.1993G>C (p.Asp665His)
c.775G>C (p.Asp259His)
c.2047G>C (p.Asp683His)
c.949G>C (p.Asp317His)
n.821G>C
n.6234G>C
c.2305G>C (p.Asp769His)
c.2212G>C (p.Asp738His)
c.2131G>C (p.Asp711His)
c.2107G>C (p.Asp703His)
c.2014G>C (p.Asp672His)
c.1240G>C (p.Asp414His)
c.1153G>C (p.Asp385His)
c.1066G>C (p.Asp356His)
c.771+4384G>C (n.771+4384G>C)
n.873G>C
17g.46018662G>TCA399983717MAPTc.955G>T (p.Asp319Tyr)
c.868G>T (p.Asp290Tyr)
c.1042G>T (p.Asp348Tyr)
n.813G>T
n.268G>T
n.226G>T
n.460G>T
c.2218G>T (p.Asp740Tyr)
c.1927G>T (p.Asp643Tyr)
c.862G>T (p.Asp288Tyr)
c.991G>T (p.Asp331Tyr)
c.1993G>T (p.Asp665Tyr)
c.775G>T (p.Asp259Tyr)
c.2047G>T (p.Asp683Tyr)
c.949G>T (p.Asp317Tyr)
n.821G>T
n.6234G>T
c.2305G>T (p.Asp769Tyr)
c.2212G>T (p.Asp738Tyr)
c.2131G>T (p.Asp711Tyr)
c.2107G>T (p.Asp703Tyr)
c.2014G>T (p.Asp672Tyr)
c.1240G>T (p.Asp414Tyr)
c.1153G>T (p.Asp385Tyr)
c.1066G>T (p.Asp356Tyr)
c.771+4384G>T (n.771+4384G>T)
n.873G>T
17g.46018663A>CCA399983718MAPTc.956A>C (p.Asp319Ala)
c.869A>C (p.Asp290Ala)
c.1043A>C (p.Asp348Ala)
n.814A>C
n.269A>C
n.227A>C
n.461A>C
c.2219A>C (p.Asp740Ala)
c.1928A>C (p.Asp643Ala)
c.863A>C (p.Asp288Ala)
c.992A>C (p.Asp331Ala)
c.1994A>C (p.Asp665Ala)
c.776A>C (p.Asp259Ala)
c.2048A>C (p.Asp683Ala)
c.950A>C (p.Asp317Ala)
n.822A>C
n.6235A>C
c.2306A>C (p.Asp769Ala)
c.2213A>C (p.Asp738Ala)
c.2132A>C (p.Asp711Ala)
c.2108A>C (p.Asp703Ala)
c.2015A>C (p.Asp672Ala)
c.1241A>C (p.Asp414Ala)
c.1154A>C (p.Asp385Ala)
c.1067A>C (p.Asp356Ala)
c.771+4385A>C (n.771+4385A>C)
n.874A>C
17g.46018663A>GCA399983719MAPTc.956A>G (p.Asp319Gly)
c.869A>G (p.Asp290Gly)
c.1043A>G (p.Asp348Gly)
n.814A>G
n.269A>G
n.227A>G
n.461A>G
c.2219A>G (p.Asp740Gly)
c.1928A>G (p.Asp643Gly)
c.863A>G (p.Asp288Gly)
c.992A>G (p.Asp331Gly)
c.1994A>G (p.Asp665Gly)
c.776A>G (p.Asp259Gly)
c.2048A>G (p.Asp683Gly)
c.950A>G (p.Asp317Gly)
n.822A>G
n.6235A>G
c.2306A>G (p.Asp769Gly)
c.2213A>G (p.Asp738Gly)
c.2132A>G (p.Asp711Gly)
c.2108A>G (p.Asp703Gly)
c.2015A>G (p.Asp672Gly)
c.1241A>G (p.Asp414Gly)
c.1154A>G (p.Asp385Gly)
c.1067A>G (p.Asp356Gly)
c.771+4385A>G (n.771+4385A>G)
n.874A>G
17g.46018663A>TCA399983720MAPTc.956A>T (p.Asp319Val)
c.869A>T (p.Asp290Val)
c.1043A>T (p.Asp348Val)
n.814A>T
n.269A>T
n.227A>T
n.461A>T
c.2219A>T (p.Asp740Val)
c.1928A>T (p.Asp643Val)
c.863A>T (p.Asp288Val)
c.992A>T (p.Asp331Val)
c.1994A>T (p.Asp665Val)
c.776A>T (p.Asp259Val)
c.2048A>T (p.Asp683Val)
c.950A>T (p.Asp317Val)
n.822A>T
n.6235A>T
c.2306A>T (p.Asp769Val)
c.2213A>T (p.Asp738Val)
c.2132A>T (p.Asp711Val)
c.2108A>T (p.Asp703Val)
c.2015A>T (p.Asp672Val)
c.1241A>T (p.Asp414Val)
c.1154A>T (p.Asp385Val)
c.1067A>T (p.Asp356Val)
c.771+4385A>T (n.771+4385A>T)
n.874A>T
17g.46018664C>ACA399983721MAPTc.957C>A (p.Asp319Glu)
c.870C>A (p.Asp290Glu)
c.1044C>A (p.Asp348Glu)
n.815C>A
n.270C>A
n.228C>A
n.462C>A
c.2220C>A (p.Asp740Glu)
c.1929C>A (p.Asp643Glu)
c.864C>A (p.Asp288Glu)
c.993C>A (p.Asp331Glu)
c.1995C>A (p.Asp665Glu)
c.777C>A (p.Asp259Glu)
c.2049C>A (p.Asp683Glu)
c.951C>A (p.Asp317Glu)
n.823C>A
n.6236C>A
c.2307C>A (p.Asp769Glu)
c.2214C>A (p.Asp738Glu)
c.2133C>A (p.Asp711Glu)
c.2109C>A (p.Asp703Glu)
c.2016C>A (p.Asp672Glu)
c.1242C>A (p.Asp414Glu)
c.1155C>A (p.Asp385Glu)
c.1068C>A (p.Asp356Glu)
c.771+4386C>A (n.771+4386C>A)
n.875C>A
17g.46018664C>GCA399983722MAPTc.957C>G (p.Asp319Glu)
c.870C>G (p.Asp290Glu)
c.1044C>G (p.Asp348Glu)
n.815C>G
n.270C>G
n.228C>G
n.462C>G
c.2220C>G (p.Asp740Glu)
c.1929C>G (p.Asp643Glu)
c.864C>G (p.Asp288Glu)
c.993C>G (p.Asp331Glu)
c.1995C>G (p.Asp665Glu)
c.777C>G (p.Asp259Glu)
c.2049C>G (p.Asp683Glu)
c.951C>G (p.Asp317Glu)
n.823C>G
n.6236C>G
c.2307C>G (p.Asp769Glu)
c.2214C>G (p.Asp738Glu)
c.2133C>G (p.Asp711Glu)
c.2109C>G (p.Asp703Glu)
c.2016C>G (p.Asp672Glu)
c.1242C>G (p.Asp414Glu)
c.1155C>G (p.Asp385Glu)
c.1068C>G (p.Asp356Glu)
c.771+4386C>G (n.771+4386C>G)
n.875C>G
17g.46018664C>TCA500371249MAPTc.957C>T (p.Asp319=)
c.870C>T (p.Asp290=)
c.1044C>T (p.Asp348=)
n.815C>T
n.270C>T
n.228C>T
n.462C>T
c.2220C>T (p.Asp740=)
c.1929C>T (p.Asp643=)
c.864C>T (p.Asp288=)
c.993C>T (p.Asp331=)
c.1995C>T (p.Asp665=)
c.777C>T (p.Asp259=)
c.2049C>T (p.Asp683=)
c.951C>T (p.Asp317=)
n.823C>T
n.6236C>T
c.2307C>T (p.Asp769=)
c.2214C>T (p.Asp738=)
c.2133C>T (p.Asp711=)
c.2109C>T (p.Asp703=)
c.2016C>T (p.Asp672=)
c.1242C>T (p.Asp414=)
c.1155C>T (p.Asp385=)
c.1068C>T (p.Asp356=)
c.771+4386C>T (n.771+4386C>T)
n.875C>T
17g.46018665A>CCA500371250MAPTc.958A>C (p.Arg320=)
c.871A>C (p.Arg291=)
c.1045A>C (p.Arg349=)
n.816A>C
n.271A>C
n.229A>C
n.463A>C
c.2221A>C (p.Arg741=)
c.1930A>C (p.Arg644=)
c.865A>C (p.Arg289=)
c.994A>C (p.Arg332=)
c.1996A>C (p.Arg666=)
c.778A>C (p.Arg260=)
c.2050A>C (p.Arg684=)
c.952A>C (p.Arg318=)
n.824A>C
n.6237A>C
c.2308A>C (p.Arg770=)
c.2215A>C (p.Arg739=)
c.2134A>C (p.Arg712=)
c.2110A>C (p.Arg704=)
c.2017A>C (p.Arg673=)
c.1243A>C (p.Arg415=)
c.1156A>C (p.Arg386=)
c.1069A>C (p.Arg357=)
c.771+4387A>C (n.771+4387A>C)
n.876A>C
17g.46018665A>GCA399983723MAPTc.958A>G (p.Arg320Gly)
c.871A>G (p.Arg291Gly)
c.1045A>G (p.Arg349Gly)
n.816A>G
n.271A>G
n.229A>G
n.463A>G
c.2221A>G (p.Arg741Gly)
c.1930A>G (p.Arg644Gly)
c.865A>G (p.Arg289Gly)
c.994A>G (p.Arg332Gly)
c.1996A>G (p.Arg666Gly)
c.778A>G (p.Arg260Gly)
c.2050A>G (p.Arg684Gly)
c.952A>G (p.Arg318Gly)
n.824A>G
n.6237A>G
c.2308A>G (p.Arg770Gly)
c.2215A>G (p.Arg739Gly)
c.2134A>G (p.Arg712Gly)
c.2110A>G (p.Arg704Gly)
c.2017A>G (p.Arg673Gly)
c.1243A>G (p.Arg415Gly)
c.1156A>G (p.Arg386Gly)
c.1069A>G (p.Arg357Gly)
c.771+4387A>G (n.771+4387A>G)
n.876A>G
17g.46018665A>TCA399983724MAPTc.958A>T (p.Arg320Ter)
c.871A>T (p.Arg291Ter)
c.1045A>T (p.Arg349Ter)
n.816A>T
n.271A>T
n.229A>T
n.463A>T
c.2221A>T (p.Arg741Ter)
c.1930A>T (p.Arg644Ter)
c.865A>T (p.Arg289Ter)
c.994A>T (p.Arg332Ter)
c.1996A>T (p.Arg666Ter)
c.778A>T (p.Arg260Ter)
c.2050A>T (p.Arg684Ter)
c.952A>T (p.Arg318Ter)
n.824A>T
n.6237A>T
c.2308A>T (p.Arg770Ter)
c.2215A>T (p.Arg739Ter)
c.2134A>T (p.Arg712Ter)
c.2110A>T (p.Arg704Ter)
c.2017A>T (p.Arg673Ter)
c.1243A>T (p.Arg415Ter)
c.1156A>T (p.Arg386Ter)
c.1069A>T (p.Arg357Ter)
c.771+4387A>T (n.771+4387A>T)
n.876A>T
17g.46018666G>ACA399983726MAPTc.959G>A (p.Arg320Lys)
c.872G>A (p.Arg291Lys)
c.1046G>A (p.Arg349Lys)
n.817G>A
n.272G>A
n.230G>A
n.464G>A
c.2222G>A (p.Arg741Lys)
c.1931G>A (p.Arg644Lys)
c.866G>A (p.Arg289Lys)
c.995G>A (p.Arg332Lys)
c.1997G>A (p.Arg666Lys)
c.779G>A (p.Arg260Lys)
c.2051G>A (p.Arg684Lys)
c.953G>A (p.Arg318Lys)
n.825G>A
n.6238G>A
c.2309G>A (p.Arg770Lys)
c.2216G>A (p.Arg739Lys)
c.2135G>A (p.Arg712Lys)
c.2111G>A (p.Arg704Lys)
c.2018G>A (p.Arg673Lys)
c.1244G>A (p.Arg415Lys)
c.1157G>A (p.Arg386Lys)
c.1070G>A (p.Arg357Lys)
c.771+4388G>A (n.771+4388G>A)
n.877G>A
17g.46018666G>CCA399983727MAPTc.959G>C (p.Arg320Thr)
c.872G>C (p.Arg291Thr)
c.1046G>C (p.Arg349Thr)
n.817G>C
n.272G>C
n.230G>C
n.464G>C
c.2222G>C (p.Arg741Thr)
c.1931G>C (p.Arg644Thr)
c.866G>C (p.Arg289Thr)
c.995G>C (p.Arg332Thr)
c.1997G>C (p.Arg666Thr)
c.779G>C (p.Arg260Thr)
c.2051G>C (p.Arg684Thr)
c.953G>C (p.Arg318Thr)
n.825G>C
n.6238G>C
c.2309G>C (p.Arg770Thr)
c.2216G>C (p.Arg739Thr)
c.2135G>C (p.Arg712Thr)
c.2111G>C (p.Arg704Thr)
c.2018G>C (p.Arg673Thr)
c.1244G>C (p.Arg415Thr)
c.1157G>C (p.Arg386Thr)
c.1070G>C (p.Arg357Thr)
c.771+4388G>C (n.771+4388G>C)
n.877G>C
17g.46018666G>TCA399983725MAPTc.959G>T (p.Arg320Ile)
c.872G>T (p.Arg291Ile)
c.1046G>T (p.Arg349Ile)
n.817G>T
n.272G>T
n.230G>T
n.464G>T
c.2222G>T (p.Arg741Ile)
c.1931G>T (p.Arg644Ile)
c.866G>T (p.Arg289Ile)
c.995G>T (p.Arg332Ile)
c.1997G>T (p.Arg666Ile)
c.779G>T (p.Arg260Ile)
c.2051G>T (p.Arg684Ile)
c.953G>T (p.Arg318Ile)
n.825G>T
n.6238G>T
c.2309G>T (p.Arg770Ile)
c.2216G>T (p.Arg739Ile)
c.2135G>T (p.Arg712Ile)
c.2111G>T (p.Arg704Ile)
c.2018G>T (p.Arg673Ile)
c.1244G>T (p.Arg415Ile)
c.1157G>T (p.Arg386Ile)
c.1070G>T (p.Arg357Ile)
c.771+4388G>T (n.771+4388G>T)
n.877G>T
17g.46018667A>CCA399983728MAPTc.960A>C (p.Arg320Ser)
c.873A>C (p.Arg291Ser)
c.1047A>C (p.Arg349Ser)
n.818A>C
n.273A>C
n.231A>C
n.465A>C
c.2223A>C (p.Arg741Ser)
c.1932A>C (p.Arg644Ser)
c.867A>C (p.Arg289Ser)
c.996A>C (p.Arg332Ser)
c.1998A>C (p.Arg666Ser)
c.780A>C (p.Arg260Ser)
c.2052A>C (p.Arg684Ser)
c.954A>C (p.Arg318Ser)
n.826A>C
n.6239A>C
c.2310A>C (p.Arg770Ser)
c.2217A>C (p.Arg739Ser)
c.2136A>C (p.Arg712Ser)
c.2112A>C (p.Arg704Ser)
c.2019A>C (p.Arg673Ser)
c.1245A>C (p.Arg415Ser)
c.1158A>C (p.Arg386Ser)
c.1071A>C (p.Arg357Ser)
c.771+4389A>C (n.771+4389A>C)
n.878A>C
17g.46018667A>GCA500371251MAPTc.960A>G (p.Arg320=)
c.873A>G (p.Arg291=)
c.1047A>G (p.Arg349=)
n.818A>G
n.273A>G
n.231A>G
n.465A>G
c.2223A>G (p.Arg741=)
c.1932A>G (p.Arg644=)
c.867A>G (p.Arg289=)
c.996A>G (p.Arg332=)
c.1998A>G (p.Arg666=)
c.780A>G (p.Arg260=)
c.2052A>G (p.Arg684=)
c.954A>G (p.Arg318=)
n.826A>G
n.6239A>G
c.2310A>G (p.Arg770=)
c.2217A>G (p.Arg739=)
c.2136A>G (p.Arg712=)
c.2112A>G (p.Arg704=)
c.2019A>G (p.Arg673=)
c.1245A>G (p.Arg415=)
c.1158A>G (p.Arg386=)
c.1071A>G (p.Arg357=)
c.771+4389A>G (n.771+4389A>G)
n.878A>G
17g.46018667A>TCA399983729MAPTc.960A>T (p.Arg320Ser)
c.873A>T (p.Arg291Ser)
c.1047A>T (p.Arg349Ser)
n.818A>T
n.273A>T
n.231A>T
n.465A>T
c.2223A>T (p.Arg741Ser)
c.1932A>T (p.Arg644Ser)
c.867A>T (p.Arg289Ser)
c.996A>T (p.Arg332Ser)
c.1998A>T (p.Arg666Ser)
c.780A>T (p.Arg260Ser)
c.2052A>T (p.Arg684Ser)
c.954A>T (p.Arg318Ser)
n.826A>T
n.6239A>T
c.2310A>T (p.Arg770Ser)
c.2217A>T (p.Arg739Ser)
c.2136A>T (p.Arg712Ser)
c.2112A>T (p.Arg704Ser)
c.2019A>T (p.Arg673Ser)
c.1245A>T (p.Arg415Ser)
c.1158A>T (p.Arg386Ser)
c.1071A>T (p.Arg357Ser)
c.771+4389A>T (n.771+4389A>T)
n.878A>T
17g.46018668G>ACA399983730MAPTc.961G>A (p.Val321Ile)
c.874G>A (p.Val292Ile)
c.1048G>A (p.Val350Ile)
n.819G>A
n.274G>A
n.232G>A
n.466G>A
c.2224G>A (p.Val742Ile)
c.1933G>A (p.Val645Ile)
c.868G>A (p.Val290Ile)
c.997G>A (p.Val333Ile)
c.1999G>A (p.Val667Ile)
c.781G>A (p.Val261Ile)
c.2053G>A (p.Val685Ile)
c.955G>A (p.Val319Ile)
n.827G>A
n.6240G>A
c.2311G>A (p.Val771Ile)
c.2218G>A (p.Val740Ile)
c.2137G>A (p.Val713Ile)
c.2113G>A (p.Val705Ile)
c.2020G>A (p.Val674Ile)
c.1246G>A (p.Val416Ile)
c.1159G>A (p.Val387Ile)
c.1072G>A (p.Val358Ile)
c.771+4390G>A (n.771+4390G>A)
n.879G>A
17g.46018668G>CCA399983731MAPTc.961G>C (p.Val321Leu)
c.874G>C (p.Val292Leu)
c.1048G>C (p.Val350Leu)
n.819G>C
n.274G>C
n.232G>C
n.466G>C
c.2224G>C (p.Val742Leu)
c.1933G>C (p.Val645Leu)
c.868G>C (p.Val290Leu)
c.997G>C (p.Val333Leu)
c.1999G>C (p.Val667Leu)
c.781G>C (p.Val261Leu)
c.2053G>C (p.Val685Leu)
c.955G>C (p.Val319Leu)
n.827G>C
n.6240G>C
c.2311G>C (p.Val771Leu)
c.2218G>C (p.Val740Leu)
c.2137G>C (p.Val713Leu)
c.2113G>C (p.Val705Leu)
c.2020G>C (p.Val674Leu)
c.1246G>C (p.Val416Leu)
c.1159G>C (p.Val387Leu)
c.1072G>C (p.Val358Leu)
c.771+4390G>C (n.771+4390G>C)
n.879G>C
17g.46018668G>TCA399983732MAPTc.961G>T (p.Val321Phe)
c.874G>T (p.Val292Phe)
c.1048G>T (p.Val350Phe)
n.819G>T
n.274G>T
n.232G>T
n.466G>T
c.2224G>T (p.Val742Phe)
c.1933G>T (p.Val645Phe)
c.868G>T (p.Val290Phe)
c.997G>T (p.Val333Phe)
c.1999G>T (p.Val667Phe)
c.781G>T (p.Val261Phe)
c.2053G>T (p.Val685Phe)
c.955G>T (p.Val319Phe)
n.827G>T
n.6240G>T
c.2311G>T (p.Val771Phe)
c.2218G>T (p.Val740Phe)
c.2137G>T (p.Val713Phe)
c.2113G>T (p.Val705Phe)
c.2020G>T (p.Val674Phe)
c.1246G>T (p.Val416Phe)
c.1159G>T (p.Val387Phe)
c.1072G>T (p.Val358Phe)
c.771+4390G>T (n.771+4390G>T)
n.879G>T
17g.46018669T>ACA399983733MAPTc.962T>A (p.Val321Asp)
c.875T>A (p.Val292Asp)
c.1049T>A (p.Val350Asp)
n.820T>A
n.275T>A
n.233T>A
n.467T>A
c.2225T>A (p.Val742Asp)
c.1934T>A (p.Val645Asp)
c.869T>A (p.Val290Asp)
c.998T>A (p.Val333Asp)
c.2000T>A (p.Val667Asp)
c.782T>A (p.Val261Asp)
c.2054T>A (p.Val685Asp)
c.956T>A (p.Val319Asp)
n.828T>A
n.6241T>A
c.2312T>A (p.Val771Asp)
c.2219T>A (p.Val740Asp)
c.2138T>A (p.Val713Asp)
c.2114T>A (p.Val705Asp)
c.2021T>A (p.Val674Asp)
c.1247T>A (p.Val416Asp)
c.1160T>A (p.Val387Asp)
c.1073T>A (p.Val358Asp)
c.771+4391T>A (n.771+4391T>A)
n.880T>A
17g.46018669T>CCA399983734MAPTc.962T>C (p.Val321Ala)
c.875T>C (p.Val292Ala)
c.1049T>C (p.Val350Ala)
n.820T>C
n.275T>C
n.233T>C
n.467T>C
c.2225T>C (p.Val742Ala)
c.1934T>C (p.Val645Ala)
c.869T>C (p.Val290Ala)
c.998T>C (p.Val333Ala)
c.2000T>C (p.Val667Ala)
c.782T>C (p.Val261Ala)
c.2054T>C (p.Val685Ala)
c.956T>C (p.Val319Ala)
n.828T>C
n.6241T>C
c.2312T>C (p.Val771Ala)
c.2219T>C (p.Val740Ala)
c.2138T>C (p.Val713Ala)
c.2114T>C (p.Val705Ala)
c.2021T>C (p.Val674Ala)
c.1247T>C (p.Val416Ala)
c.1160T>C (p.Val387Ala)
c.1073T>C (p.Val358Ala)
c.771+4391T>C (n.771+4391T>C)
n.880T>C
17g.46018669T>GCA399983735MAPTc.962T>G (p.Val321Gly)
c.875T>G (p.Val292Gly)
c.1049T>G (p.Val350Gly)
n.820T>G
n.275T>G
n.233T>G
n.467T>G
c.2225T>G (p.Val742Gly)
c.1934T>G (p.Val645Gly)
c.869T>G (p.Val290Gly)
c.998T>G (p.Val333Gly)
c.2000T>G (p.Val667Gly)
c.782T>G (p.Val261Gly)
c.2054T>G (p.Val685Gly)
c.956T>G (p.Val319Gly)
n.828T>G
n.6241T>G
c.2312T>G (p.Val771Gly)
c.2219T>G (p.Val740Gly)
c.2138T>G (p.Val713Gly)
c.2114T>G (p.Val705Gly)
c.2021T>G (p.Val674Gly)
c.1247T>G (p.Val416Gly)
c.1160T>G (p.Val387Gly)
c.1073T>G (p.Val358Gly)
c.771+4391T>G (n.771+4391T>G)
n.880T>G
17g.46018670C>ACA500371253MAPTc.963C>A (p.Val321=)
c.876C>A (p.Val292=)
c.1050C>A (p.Val350=)
n.821C>A
n.276C>A
n.234C>A
n.468C>A
c.2226C>A (p.Val742=)
c.1935C>A (p.Val645=)
c.870C>A (p.Val290=)
c.999C>A (p.Val333=)
c.2001C>A (p.Val667=)
c.783C>A (p.Val261=)
c.2055C>A (p.Val685=)
c.957C>A (p.Val319=)
n.829C>A
n.6242C>A
c.2313C>A (p.Val771=)
c.2220C>A (p.Val740=)
c.2139C>A (p.Val713=)
c.2115C>A (p.Val705=)
c.2022C>A (p.Val674=)
c.1248C>A (p.Val416=)
c.1161C>A (p.Val387=)
c.1074C>A (p.Val358=)
c.771+4392C>A (n.771+4392C>A)
n.881C>A
17g.46018670C>GCA500371252MAPTc.963C>G (p.Val321=)
c.876C>G (p.Val292=)
c.1050C>G (p.Val350=)
n.821C>G
n.276C>G
n.234C>G
n.468C>G
c.2226C>G (p.Val742=)
c.1935C>G (p.Val645=)
c.870C>G (p.Val290=)
c.999C>G (p.Val333=)
c.2001C>G (p.Val667=)
c.783C>G (p.Val261=)
c.2055C>G (p.Val685=)
c.957C>G (p.Val319=)
n.829C>G
n.6242C>G
c.2313C>G (p.Val771=)
c.2220C>G (p.Val740=)
c.2139C>G (p.Val713=)
c.2115C>G (p.Val705=)
c.2022C>G (p.Val674=)
c.1248C>G (p.Val416=)
c.1161C>G (p.Val387=)
c.1074C>G (p.Val358=)
c.771+4392C>G (n.771+4392C>G)
n.881C>G
 COSMIC COSMIC
17g.46018670C>TCA500371254MAPTc.963C>T (p.Val321=)
c.876C>T (p.Val292=)
c.1050C>T (p.Val350=)
n.821C>T
n.276C>T
n.234C>T
n.468C>T
c.2226C>T (p.Val742=)
c.1935C>T (p.Val645=)
c.870C>T (p.Val290=)
c.999C>T (p.Val333=)
c.2001C>T (p.Val667=)
c.783C>T (p.Val261=)
c.2055C>T (p.Val685=)
c.957C>T (p.Val319=)
n.829C>T
n.6242C>T
c.2313C>T (p.Val771=)
c.2220C>T (p.Val740=)
c.2139C>T (p.Val713=)
c.2115C>T (p.Val705=)
c.2022C>T (p.Val674=)
c.1248C>T (p.Val416=)
c.1161C>T (p.Val387=)
c.1074C>T (p.Val358=)
c.771+4392C>T (n.771+4392C>T)
n.881C>T
 gnomAD v4
17g.46018671C>ACA399983736MAPTc.964C>A (p.Gln322Lys)
c.877C>A (p.Gln293Lys)
c.1051C>A (p.Gln351Lys)
n.822C>A
n.277C>A
n.235C>A
n.469C>A
c.2227C>A (p.Gln743Lys)
c.1936C>A (p.Gln646Lys)
c.871C>A (p.Gln291Lys)
c.1000C>A (p.Gln334Lys)
c.2002C>A (p.Gln668Lys)
c.784C>A (p.Gln262Lys)
c.2056C>A (p.Gln686Lys)
c.958C>A (p.Gln320Lys)
n.830C>A
n.6243C>A
c.2314C>A (p.Gln772Lys)
c.2221C>A (p.Gln741Lys)
c.2140C>A (p.Gln714Lys)
c.2116C>A (p.Gln706Lys)
c.2023C>A (p.Gln675Lys)
c.1249C>A (p.Gln417Lys)
c.1162C>A (p.Gln388Lys)
c.1075C>A (p.Gln359Lys)
c.771+4393C>A (n.771+4393C>A)
n.882C>A
17g.46018671C>GCA399983737MAPTc.964C>G (p.Gln322Glu)
c.877C>G (p.Gln293Glu)
c.1051C>G (p.Gln351Glu)
n.822C>G
n.277C>G
n.235C>G
n.469C>G
c.2227C>G (p.Gln743Glu)
c.1936C>G (p.Gln646Glu)
c.871C>G (p.Gln291Glu)
c.1000C>G (p.Gln334Glu)
c.2002C>G (p.Gln668Glu)
c.784C>G (p.Gln262Glu)
c.2056C>G (p.Gln686Glu)
c.958C>G (p.Gln320Glu)
n.830C>G
n.6243C>G
c.2314C>G (p.Gln772Glu)
c.2221C>G (p.Gln741Glu)
c.2140C>G (p.Gln714Glu)
c.2116C>G (p.Gln706Glu)
c.2023C>G (p.Gln675Glu)
c.1249C>G (p.Gln417Glu)
c.1162C>G (p.Gln388Glu)
c.1075C>G (p.Gln359Glu)
c.771+4393C>G (n.771+4393C>G)
n.882C>G
17g.46018671C>TCA399983738MAPTc.964C>T (p.Gln322Ter)
c.877C>T (p.Gln293Ter)
c.1051C>T (p.Gln351Ter)
n.822C>T
n.277C>T
n.235C>T
n.469C>T
c.2227C>T (p.Gln743Ter)
c.1936C>T (p.Gln646Ter)
c.871C>T (p.Gln291Ter)
c.1000C>T (p.Gln334Ter)
c.2002C>T (p.Gln668Ter)
c.784C>T (p.Gln262Ter)
c.2056C>T (p.Gln686Ter)
c.958C>T (p.Gln320Ter)
n.830C>T
n.6243C>T
c.2314C>T (p.Gln772Ter)
c.2221C>T (p.Gln741Ter)
c.2140C>T (p.Gln714Ter)
c.2116C>T (p.Gln706Ter)
c.2023C>T (p.Gln675Ter)
c.1249C>T (p.Gln417Ter)
c.1162C>T (p.Gln388Ter)
c.1075C>T (p.Gln359Ter)
c.771+4393C>T (n.771+4393C>T)
n.882C>T
 gnomAD v4
17g.46018672A=CA2262104735MAPTc.965A= (p.Gln322=)
c.878A= (p.Gln293=)
c.1052A= (p.Gln351=)
n.823A=
n.278A=
n.236A=
n.470A=
c.2228A= (p.Gln743=)
c.1937A= (p.Gln646=)
c.872A= (p.Gln291=)
c.1001A= (p.Gln334=)
c.2003A= (p.Gln668=)
c.785A= (p.Gln262=)
c.2057A= (p.Gln686=)
c.959A= (p.Gln320=)
n.831A=
n.6244A=
c.2315A= (p.Gln772=)
c.2222A= (p.Gln741=)
c.2141A= (p.Gln714=)
c.2117A= (p.Gln706=)
c.2024A= (p.Gln675=)
c.1250A= (p.Gln417=)
c.1163A= (p.Gln388=)
c.1076A= (p.Gln359=)
c.771+4394A= (n.771+4394A=)
n.883A=
17g.46018672A>CCA399983741MAPTc.965A>C (p.Gln322Pro)
c.878A>C (p.Gln293Pro)
c.1052A>C (p.Gln351Pro)
n.823A>C
n.278A>C
n.236A>C
n.470A>C
c.2228A>C (p.Gln743Pro)
c.1937A>C (p.Gln646Pro)
c.872A>C (p.Gln291Pro)
c.1001A>C (p.Gln334Pro)
c.2003A>C (p.Gln668Pro)
c.785A>C (p.Gln262Pro)
c.2057A>C (p.Gln686Pro)
c.959A>C (p.Gln320Pro)
n.831A>C
n.6244A>C
c.2315A>C (p.Gln772Pro)
c.2222A>C (p.Gln741Pro)
c.2141A>C (p.Gln714Pro)
c.2117A>C (p.Gln706Pro)
c.2024A>C (p.Gln675Pro)
c.1250A>C (p.Gln417Pro)
c.1163A>C (p.Gln388Pro)
c.1076A>C (p.Gln359Pro)
c.771+4394A>C (n.771+4394A>C)
n.883A>C
17g.46018672A>GCA399983740MAPTc.965A>G (p.Gln322Arg)
c.878A>G (p.Gln293Arg)
c.1052A>G (p.Gln351Arg)
n.823A>G
n.278A>G
n.236A>G
n.470A>G
c.2228A>G (p.Gln743Arg)
c.1937A>G (p.Gln646Arg)
c.872A>G (p.Gln291Arg)
c.1001A>G (p.Gln334Arg)
c.2003A>G (p.Gln668Arg)
c.785A>G (p.Gln262Arg)
c.2057A>G (p.Gln686Arg)
c.959A>G (p.Gln320Arg)
n.831A>G
n.6244A>G
c.2315A>G (p.Gln772Arg)
c.2222A>G (p.Gln741Arg)
c.2141A>G (p.Gln714Arg)
c.2117A>G (p.Gln706Arg)
c.2024A>G (p.Gln675Arg)
c.1250A>G (p.Gln417Arg)
c.1163A>G (p.Gln388Arg)
c.1076A>G (p.Gln359Arg)
c.771+4394A>G (n.771+4394A>G)
n.883A>G
 ClinVar dbSNP
17g.46018672A>TCA399983739MAPTc.965A>T (p.Gln322Leu)
c.878A>T (p.Gln293Leu)
c.1052A>T (p.Gln351Leu)
n.823A>T
n.278A>T
n.236A>T
n.470A>T
c.2228A>T (p.Gln743Leu)
c.1937A>T (p.Gln646Leu)
c.872A>T (p.Gln291Leu)
c.1001A>T (p.Gln334Leu)
c.2003A>T (p.Gln668Leu)
c.785A>T (p.Gln262Leu)
c.2057A>T (p.Gln686Leu)
c.959A>T (p.Gln320Leu)
n.831A>T
n.6244A>T
c.2315A>T (p.Gln772Leu)
c.2222A>T (p.Gln741Leu)
c.2141A>T (p.Gln714Leu)
c.2117A>T (p.Gln706Leu)
c.2024A>T (p.Gln675Leu)
c.1250A>T (p.Gln417Leu)
c.1163A>T (p.Gln388Leu)
c.1076A>T (p.Gln359Leu)
c.771+4394A>T (n.771+4394A>T)
n.883A>T
17g.46018673G>ACA500371255MAPTc.966G>A (p.Gln322=)
c.879G>A (p.Gln293=)
c.1053G>A (p.Gln351=)
n.824G>A
n.279G>A
n.237G>A
n.471G>A
c.2229G>A (p.Gln743=)
c.1938G>A (p.Gln646=)
c.873G>A (p.Gln291=)
c.1002G>A (p.Gln334=)
c.2004G>A (p.Gln668=)
c.786G>A (p.Gln262=)
c.2058G>A (p.Gln686=)
c.960G>A (p.Gln320=)
n.832G>A
n.6245G>A
c.2316G>A (p.Gln772=)
c.2223G>A (p.Gln741=)
c.2142G>A (p.Gln714=)
c.2118G>A (p.Gln706=)
c.2025G>A (p.Gln675=)
c.1251G>A (p.Gln417=)
c.1164G>A (p.Gln388=)
c.1077G>A (p.Gln359=)
c.771+4395G>A (n.771+4395G>A)
n.884G>A
17g.46018673G>CCA399983743MAPTc.966G>C (p.Gln322His)
c.879G>C (p.Gln293His)
c.1053G>C (p.Gln351His)
n.824G>C
n.279G>C
n.237G>C
n.471G>C
c.2229G>C (p.Gln743His)
c.1938G>C (p.Gln646His)
c.873G>C (p.Gln291His)
c.1002G>C (p.Gln334His)
c.2004G>C (p.Gln668His)
c.786G>C (p.Gln262His)
c.2058G>C (p.Gln686His)
c.960G>C (p.Gln320His)
n.832G>C
n.6245G>C
c.2316G>C (p.Gln772His)
c.2223G>C (p.Gln741His)
c.2142G>C (p.Gln714His)
c.2118G>C (p.Gln706His)
c.2025G>C (p.Gln675His)
c.1251G>C (p.Gln417His)
c.1164G>C (p.Gln388His)
c.1077G>C (p.Gln359His)
c.771+4395G>C (n.771+4395G>C)
n.884G>C
 gnomAD v4
17g.46018673G>TCA399983744MAPTc.966G>T (p.Gln322His)
c.879G>T (p.Gln293His)
c.1053G>T (p.Gln351His)
n.824G>T
n.279G>T
n.237G>T
n.471G>T
c.2229G>T (p.Gln743His)
c.1938G>T (p.Gln646His)
c.873G>T (p.Gln291His)
c.1002G>T (p.Gln334His)
c.2004G>T (p.Gln668His)
c.786G>T (p.Gln262His)
c.2058G>T (p.Gln686His)
c.960G>T (p.Gln320His)
n.832G>T
n.6245G>T
c.2316G>T (p.Gln772His)
c.2223G>T (p.Gln741His)
c.2142G>T (p.Gln714His)
c.2118G>T (p.Gln706His)
c.2025G>T (p.Gln675His)
c.1251G>T (p.Gln417His)
c.1164G>T (p.Gln388His)
c.1077G>T (p.Gln359His)
c.771+4395G>T (n.771+4395G>T)
n.884G>T
17g.46018674T>ACA399983745MAPTc.967T>A (p.Ser323Thr)
c.880T>A (p.Ser294Thr)
c.1054T>A (p.Ser352Thr)
n.825T>A
n.280T>A
n.238T>A
n.472T>A
c.2230T>A (p.Ser744Thr)
c.1939T>A (p.Ser647Thr)
c.874T>A (p.Ser292Thr)
c.1003T>A (p.Ser335Thr)
c.2005T>A (p.Ser669Thr)
c.787T>A (p.Ser263Thr)
c.2059T>A (p.Ser687Thr)
c.961T>A (p.Ser321Thr)
n.833T>A
n.6246T>A
c.2317T>A (p.Ser773Thr)
c.2224T>A (p.Ser742Thr)
c.2143T>A (p.Ser715Thr)
c.2119T>A (p.Ser707Thr)
c.2026T>A (p.Ser676Thr)
c.1252T>A (p.Ser418Thr)
c.1165T>A (p.Ser389Thr)
c.1078T>A (p.Ser360Thr)
c.771+4396T>A (n.771+4396T>A)
n.885T>A
17g.46018674T>CCA8618225MAPTc.967T>C (p.Ser323Pro)
c.880T>C (p.Ser294Pro)
c.1054T>C (p.Ser352Pro)
n.825T>C
n.280T>C
n.238T>C
n.472T>C
c.2230T>C (p.Ser744Pro)
c.1939T>C (p.Ser647Pro)
c.874T>C (p.Ser292Pro)
c.1003T>C (p.Ser335Pro)
c.2005T>C (p.Ser669Pro)
c.787T>C (p.Ser263Pro)
c.2059T>C (p.Ser687Pro)
c.961T>C (p.Ser321Pro)
n.833T>C
n.6246T>C
c.2317T>C (p.Ser773Pro)
c.2224T>C (p.Ser742Pro)
c.2143T>C (p.Ser715Pro)
c.2119T>C (p.Ser707Pro)
c.2026T>C (p.Ser676Pro)
c.1252T>C (p.Ser418Pro)
c.1165T>C (p.Ser389Pro)
c.1078T>C (p.Ser360Pro)
c.771+4396T>C (n.771+4396T>C)
n.885T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46018674T>GCA399983746MAPTc.967T>G (p.Ser323Ala)
c.880T>G (p.Ser294Ala)
c.1054T>G (p.Ser352Ala)
n.825T>G
n.280T>G
n.238T>G
n.472T>G
c.2230T>G (p.Ser744Ala)
c.1939T>G (p.Ser647Ala)
c.874T>G (p.Ser292Ala)
c.1003T>G (p.Ser335Ala)
c.2005T>G (p.Ser669Ala)
c.787T>G (p.Ser263Ala)
c.2059T>G (p.Ser687Ala)
c.961T>G (p.Ser321Ala)
n.833T>G
n.6246T>G
c.2317T>G (p.Ser773Ala)
c.2224T>G (p.Ser742Ala)
c.2143T>G (p.Ser715Ala)
c.2119T>G (p.Ser707Ala)
c.2026T>G (p.Ser676Ala)
c.1252T>G (p.Ser418Ala)
c.1165T>G (p.Ser389Ala)
c.1078T>G (p.Ser360Ala)
c.771+4396T>G (n.771+4396T>G)
n.885T>G
17g.46018674T=CA2262104736MAPTc.967T= (p.Ser323=)
c.880T= (p.Ser294=)
c.1054T= (p.Ser352=)
n.825T=
n.280T=
n.238T=
n.472T=
c.2230T= (p.Ser744=)
c.1939T= (p.Ser647=)
c.874T= (p.Ser292=)
c.1003T= (p.Ser335=)
c.2005T= (p.Ser669=)
c.787T= (p.Ser263=)
c.2059T= (p.Ser687=)
c.961T= (p.Ser321=)
n.833T=
n.6246T=
c.2317T= (p.Ser773=)
c.2224T= (p.Ser742=)
c.2143T= (p.Ser715=)
c.2119T= (p.Ser707=)
c.2026T= (p.Ser676=)
c.1252T= (p.Ser418=)
c.1165T= (p.Ser389=)
c.1078T= (p.Ser360=)
c.771+4396T= (n.771+4396T=)
n.885T=
17g.46018675C>ACA399983747MAPTc.968C>A (p.Ser323Ter)
c.881C>A (p.Ser294Ter)
c.1055C>A (p.Ser352Ter)
n.826C>A
n.281C>A
n.239C>A
n.473C>A
c.2231C>A (p.Ser744Ter)
c.1940C>A (p.Ser647Ter)
c.875C>A (p.Ser292Ter)
c.1004C>A (p.Ser335Ter)
c.2006C>A (p.Ser669Ter)
c.788C>A (p.Ser263Ter)
c.2060C>A (p.Ser687Ter)
c.962C>A (p.Ser321Ter)
n.834C>A
n.6247C>A
c.2318C>A (p.Ser773Ter)
c.2225C>A (p.Ser742Ter)
c.2144C>A (p.Ser715Ter)
c.2120C>A (p.Ser707Ter)
c.2027C>A (p.Ser676Ter)
c.1253C>A (p.Ser418Ter)
c.1166C>A (p.Ser389Ter)
c.1079C>A (p.Ser360Ter)
c.771+4397C>A (n.771+4397C>A)
n.886C>A
 dbSNP
17g.46018675C=CA2262104737MAPTc.968C= (p.Ser323=)
c.881C= (p.Ser294=)
c.1055C= (p.Ser352=)
n.826C=
n.281C=
n.239C=
n.473C=
c.2231C= (p.Ser744=)
c.1940C= (p.Ser647=)
c.875C= (p.Ser292=)
c.1004C= (p.Ser335=)
c.2006C= (p.Ser669=)
c.788C= (p.Ser263=)
c.2060C= (p.Ser687=)
c.962C= (p.Ser321=)
n.834C=
n.6247C=
c.2318C= (p.Ser773=)
c.2225C= (p.Ser742=)
c.2144C= (p.Ser715=)
c.2120C= (p.Ser707=)
c.2027C= (p.Ser676=)
c.1253C= (p.Ser418=)
c.1166C= (p.Ser389=)
c.1079C= (p.Ser360=)
c.771+4397C= (n.771+4397C=)
n.886C=
17g.46018675C>GCA399983748MAPTc.968C>G (p.Ser323Trp)
c.881C>G (p.Ser294Trp)
c.1055C>G (p.Ser352Trp)
n.826C>G
n.281C>G
n.239C>G
n.473C>G
c.2231C>G (p.Ser744Trp)
c.1940C>G (p.Ser647Trp)
c.875C>G (p.Ser292Trp)
c.1004C>G (p.Ser335Trp)
c.2006C>G (p.Ser669Trp)
c.788C>G (p.Ser263Trp)
c.2060C>G (p.Ser687Trp)
c.962C>G (p.Ser321Trp)
n.834C>G
n.6247C>G
c.2318C>G (p.Ser773Trp)
c.2225C>G (p.Ser742Trp)
c.2144C>G (p.Ser715Trp)
c.2120C>G (p.Ser707Trp)
c.2027C>G (p.Ser676Trp)
c.1253C>G (p.Ser418Trp)
c.1166C>G (p.Ser389Trp)
c.1079C>G (p.Ser360Trp)
c.771+4397C>G (n.771+4397C>G)
n.886C>G
17g.46018675C>TCA225487MAPTc.968C>T (p.Ser323Leu)
c.881C>T (p.Ser294Leu)
c.1055C>T (p.Ser352Leu)
n.826C>T
n.281C>T
n.239C>T
n.473C>T
c.2231C>T (p.Ser744Leu)
c.1940C>T (p.Ser647Leu)
c.875C>T (p.Ser292Leu)
c.1004C>T (p.Ser335Leu)
c.2006C>T (p.Ser669Leu)
c.788C>T (p.Ser263Leu)
c.2060C>T (p.Ser687Leu)
c.962C>T (p.Ser321Leu)
n.834C>T
n.6247C>T
c.2318C>T (p.Ser773Leu)
c.2225C>T (p.Ser742Leu)
c.2144C>T (p.Ser715Leu)
c.2120C>T (p.Ser707Leu)
c.2027C>T (p.Ser676Leu)
c.1253C>T (p.Ser418Leu)
c.1166C>T (p.Ser389Leu)
c.1079C>T (p.Ser360Leu)
c.771+4397C>T (n.771+4397C>T)
n.886C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.46018676G>ACA8618226MAPTc.969G>A (p.Ser323=)
c.882G>A (p.Ser294=)
c.1056G>A (p.Ser352=)
n.827G>A
n.282G>A
n.240G>A
n.474G>A
c.2232G>A (p.Ser744=)
c.1941G>A (p.Ser647=)
c.876G>A (p.Ser292=)
c.1005G>A (p.Ser335=)
c.2007G>A (p.Ser669=)
c.789G>A (p.Ser263=)
c.2061G>A (p.Ser687=)
c.963G>A (p.Ser321=)
n.835G>A
n.6248G>A
c.2319G>A (p.Ser773=)
c.2226G>A (p.Ser742=)
c.2145G>A (p.Ser715=)
c.2121G>A (p.Ser707=)
c.2028G>A (p.Ser676=)
c.1254G>A (p.Ser418=)
c.1167G>A (p.Ser389=)
c.1080G>A (p.Ser360=)
c.771+4398G>A (n.771+4398G>A)
n.887G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.46018676G>CCA500371256MAPTc.969G>C (p.Ser323=)
c.882G>C (p.Ser294=)
c.1056G>C (p.Ser352=)
n.827G>C
n.282G>C
n.240G>C
n.474G>C
c.2232G>C (p.Ser744=)
c.1941G>C (p.Ser647=)
c.876G>C (p.Ser292=)
c.1005G>C (p.Ser335=)
c.2007G>C (p.Ser669=)
c.789G>C (p.Ser263=)
c.2061G>C (p.Ser687=)
c.963G>C (p.Ser321=)
n.835G>C
n.6248G>C
c.2319G>C (p.Ser773=)
c.2226G>C (p.Ser742=)
c.2145G>C (p.Ser715=)
c.2121G>C (p.Ser707=)
c.2028G>C (p.Ser676=)
c.1254G>C (p.Ser418=)
c.1167G>C (p.Ser389=)
c.1080G>C (p.Ser360=)
c.771+4398G>C (n.771+4398G>C)
n.887G>C
 ClinVar dbSNP gnomAD v4
17g.46018676G=CA2262104738MAPTc.969G= (p.Ser323=)
c.882G= (p.Ser294=)
c.1056G= (p.Ser352=)
n.827G=
n.282G=
n.240G=
n.474G=
c.2232G= (p.Ser744=)
c.1941G= (p.Ser647=)
c.876G= (p.Ser292=)
c.1005G= (p.Ser335=)
c.2007G= (p.Ser669=)
c.789G= (p.Ser263=)
c.2061G= (p.Ser687=)
c.963G= (p.Ser321=)
n.835G=
n.6248G=
c.2319G= (p.Ser773=)
c.2226G= (p.Ser742=)
c.2145G= (p.Ser715=)
c.2121G= (p.Ser707=)
c.2028G= (p.Ser676=)
c.1254G= (p.Ser418=)
c.1167G= (p.Ser389=)
c.1080G= (p.Ser360=)
c.771+4398G= (n.771+4398G=)
n.887G=
17g.46018676G>TCA500371257MAPTc.969G>T (p.Ser323=)
c.882G>T (p.Ser294=)
c.1056G>T (p.Ser352=)
n.827G>T
n.282G>T
n.240G>T
n.474G>T
c.2232G>T (p.Ser744=)
c.1941G>T (p.Ser647=)
c.876G>T (p.Ser292=)
c.1005G>T (p.Ser335=)
c.2007G>T (p.Ser669=)
c.789G>T (p.Ser263=)
c.2061G>T (p.Ser687=)
c.963G>T (p.Ser321=)
n.835G>T
n.6248G>T
c.2319G>T (p.Ser773=)
c.2226G>T (p.Ser742=)
c.2145G>T (p.Ser715=)
c.2121G>T (p.Ser707=)
c.2028G>T (p.Ser676=)
c.1254G>T (p.Ser418=)
c.1167G>T (p.Ser389=)
c.1080G>T (p.Ser360=)
c.771+4398G>T (n.771+4398G>T)
n.887G>T
17g.46018677A>CCA399983752MAPTc.970A>C (p.Lys324Gln)
c.883A>C (p.Lys295Gln)
c.1057A>C (p.Lys353Gln)
n.828A>C
n.283A>C
n.241A>C
n.475A>C
c.2233A>C (p.Lys745Gln)
c.1942A>C (p.Lys648Gln)
c.877A>C (p.Lys293Gln)
c.1006A>C (p.Lys336Gln)
c.2008A>C (p.Lys670Gln)
c.790A>C (p.Lys264Gln)
c.2062A>C (p.Lys688Gln)
c.964A>C (p.Lys322Gln)
n.836A>C
n.6249A>C
c.2320A>C (p.Lys774Gln)
c.2227A>C (p.Lys743Gln)
c.2146A>C (p.Lys716Gln)
c.2122A>C (p.Lys708Gln)
c.2029A>C (p.Lys677Gln)
c.1255A>C (p.Lys419Gln)
c.1168A>C (p.Lys390Gln)
c.1081A>C (p.Lys361Gln)
c.771+4399A>C (n.771+4399A>C)
n.888A>C
17g.46018677A>GCA399983753MAPTc.970A>G (p.Lys324Glu)
c.883A>G (p.Lys295Glu)
c.1057A>G (p.Lys353Glu)
n.828A>G
n.283A>G
n.241A>G
n.475A>G
c.2233A>G (p.Lys745Glu)
c.1942A>G (p.Lys648Glu)
c.877A>G (p.Lys293Glu)
c.1006A>G (p.Lys336Glu)
c.2008A>G (p.Lys670Glu)
c.790A>G (p.Lys264Glu)
c.2062A>G (p.Lys688Glu)
c.964A>G (p.Lys322Glu)
n.836A>G
n.6249A>G
c.2320A>G (p.Lys774Glu)
c.2227A>G (p.Lys743Glu)
c.2146A>G (p.Lys716Glu)
c.2122A>G (p.Lys708Glu)
c.2029A>G (p.Lys677Glu)
c.1255A>G (p.Lys419Glu)
c.1168A>G (p.Lys390Glu)
c.1081A>G (p.Lys361Glu)
c.771+4399A>G (n.771+4399A>G)
n.888A>G
17g.46018677A>TCA399983754MAPTc.970A>T (p.Lys324Ter)
c.883A>T (p.Lys295Ter)
c.1057A>T (p.Lys353Ter)
n.828A>T
n.283A>T
n.241A>T
n.475A>T
c.2233A>T (p.Lys745Ter)
c.1942A>T (p.Lys648Ter)
c.877A>T (p.Lys293Ter)
c.1006A>T (p.Lys336Ter)
c.2008A>T (p.Lys670Ter)
c.790A>T (p.Lys264Ter)
c.2062A>T (p.Lys688Ter)
c.964A>T (p.Lys322Ter)
n.836A>T
n.6249A>T
c.2320A>T (p.Lys774Ter)
c.2227A>T (p.Lys743Ter)
c.2146A>T (p.Lys716Ter)
c.2122A>T (p.Lys708Ter)
c.2029A>T (p.Lys677Ter)
c.1255A>T (p.Lys419Ter)
c.1168A>T (p.Lys390Ter)
c.1081A>T (p.Lys361Ter)
c.771+4399A>T (n.771+4399A>T)
n.888A>T
17g.46018678A>CCA399983761MAPTc.971A>C (p.Lys324Thr)
c.884A>C (p.Lys295Thr)
c.1058A>C (p.Lys353Thr)
n.829A>C
n.284A>C
n.242A>C
n.476A>C
c.2234A>C (p.Lys745Thr)
c.1943A>C (p.Lys648Thr)
c.878A>C (p.Lys293Thr)
c.1007A>C (p.Lys336Thr)
c.2009A>C (p.Lys670Thr)
c.791A>C (p.Lys264Thr)
c.2063A>C (p.Lys688Thr)
c.965A>C (p.Lys322Thr)
n.837A>C
n.6250A>C
c.2321A>C (p.Lys774Thr)
c.2228A>C (p.Lys743Thr)
c.2147A>C (p.Lys716Thr)
c.2123A>C (p.Lys708Thr)
c.2030A>C (p.Lys677Thr)
c.1256A>C (p.Lys419Thr)
c.1169A>C (p.Lys390Thr)
c.1082A>C (p.Lys361Thr)
c.771+4400A>C (n.771+4400A>C)
n.889A>C
17g.46018678A>GCA399983759MAPTc.971A>G (p.Lys324Arg)
c.884A>G (p.Lys295Arg)
c.1058A>G (p.Lys353Arg)
n.829A>G
n.284A>G
n.242A>G
n.476A>G
c.2234A>G (p.Lys745Arg)
c.1943A>G (p.Lys648Arg)
c.878A>G (p.Lys293Arg)
c.1007A>G (p.Lys336Arg)
c.2009A>G (p.Lys670Arg)
c.791A>G (p.Lys264Arg)
c.2063A>G (p.Lys688Arg)
c.965A>G (p.Lys322Arg)
n.837A>G
n.6250A>G
c.2321A>G (p.Lys774Arg)
c.2228A>G (p.Lys743Arg)
c.2147A>G (p.Lys716Arg)
c.2123A>G (p.Lys708Arg)
c.2030A>G (p.Lys677Arg)
c.1256A>G (p.Lys419Arg)
c.1169A>G (p.Lys390Arg)
c.1082A>G (p.Lys361Arg)
c.771+4400A>G (n.771+4400A>G)
n.889A>G
17g.46018678A>TCA399983757MAPTc.971A>T (p.Lys324Met)
c.884A>T (p.Lys295Met)
c.1058A>T (p.Lys353Met)
n.829A>T
n.284A>T
n.242A>T
n.476A>T
c.2234A>T (p.Lys745Met)
c.1943A>T (p.Lys648Met)
c.878A>T (p.Lys293Met)
c.1007A>T (p.Lys336Met)
c.2009A>T (p.Lys670Met)
c.791A>T (p.Lys264Met)
c.2063A>T (p.Lys688Met)
c.965A>T (p.Lys322Met)
n.837A>T
n.6250A>T
c.2321A>T (p.Lys774Met)
c.2228A>T (p.Lys743Met)
c.2147A>T (p.Lys716Met)
c.2123A>T (p.Lys708Met)
c.2030A>T (p.Lys677Met)
c.1256A>T (p.Lys419Met)
c.1169A>T (p.Lys390Met)
c.1082A>T (p.Lys361Met)
c.771+4400A>T (n.771+4400A>T)
n.889A>T
17g.46018679G>ACA500371258MAPTc.972G>A (p.Lys324=)
c.885G>A (p.Lys295=)
c.1059G>A (p.Lys353=)
n.830G>A
n.285G>A
n.243G>A
n.477G>A
c.2235G>A (p.Lys745=)
c.1944G>A (p.Lys648=)
c.879G>A (p.Lys293=)
c.1008G>A (p.Lys336=)
c.2010G>A (p.Lys670=)
c.792G>A (p.Lys264=)
c.2064G>A (p.Lys688=)
c.966G>A (p.Lys322=)
n.838G>A
n.6251G>A
c.2322G>A (p.Lys774=)
c.2229G>A (p.Lys743=)
c.2148G>A (p.Lys716=)
c.2124G>A (p.Lys708=)
c.2031G>A (p.Lys677=)
c.1257G>A (p.Lys419=)
c.1170G>A (p.Lys390=)
c.1083G>A (p.Lys361=)
c.771+4401G>A (n.771+4401G>A)
n.890G>A
17g.46018679G>CCA399983765MAPTc.972G>C (p.Lys324Asn)
c.885G>C (p.Lys295Asn)
c.1059G>C (p.Lys353Asn)
n.830G>C
n.285G>C
n.243G>C
n.477G>C
c.2235G>C (p.Lys745Asn)
c.1944G>C (p.Lys648Asn)
c.879G>C (p.Lys293Asn)
c.1008G>C (p.Lys336Asn)
c.2010G>C (p.Lys670Asn)
c.792G>C (p.Lys264Asn)
c.2064G>C (p.Lys688Asn)
c.966G>C (p.Lys322Asn)
n.838G>C
n.6251G>C
c.2322G>C (p.Lys774Asn)
c.2229G>C (p.Lys743Asn)
c.2148G>C (p.Lys716Asn)
c.2124G>C (p.Lys708Asn)
c.2031G>C (p.Lys677Asn)
c.1257G>C (p.Lys419Asn)
c.1170G>C (p.Lys390Asn)
c.1083G>C (p.Lys361Asn)
c.771+4401G>C (n.771+4401G>C)
n.890G>C
17g.46018679G>TCA399983763MAPTc.972G>T (p.Lys324Asn)
c.885G>T (p.Lys295Asn)
c.1059G>T (p.Lys353Asn)
n.830G>T
n.285G>T
n.243G>T
n.477G>T
c.2235G>T (p.Lys745Asn)
c.1944G>T (p.Lys648Asn)
c.879G>T (p.Lys293Asn)
c.1008G>T (p.Lys336Asn)
c.2010G>T (p.Lys670Asn)
c.792G>T (p.Lys264Asn)
c.2064G>T (p.Lys688Asn)
c.966G>T (p.Lys322Asn)
n.838G>T
n.6251G>T
c.2322G>T (p.Lys774Asn)
c.2229G>T (p.Lys743Asn)
c.2148G>T (p.Lys716Asn)
c.2124G>T (p.Lys708Asn)
c.2031G>T (p.Lys677Asn)
c.1257G>T (p.Lys419Asn)
c.1170G>T (p.Lys390Asn)
c.1083G>T (p.Lys361Asn)
c.771+4401G>T (n.771+4401G>T)
n.890G>T
17g.46018680A>CCA399983770MAPTc.973A>C (p.Ile325Leu)
c.886A>C (p.Ile296Leu)
c.1060A>C (p.Ile354Leu)
n.831A>C
n.286A>C
n.244A>C
n.478A>C
c.2236A>C (p.Ile746Leu)
c.1945A>C (p.Ile649Leu)
c.880A>C (p.Ile294Leu)
c.1009A>C (p.Ile337Leu)
c.2011A>C (p.Ile671Leu)
c.793A>C (p.Ile265Leu)
c.2065A>C (p.Ile689Leu)
c.967A>C (p.Ile323Leu)
n.839A>C
n.6252A>C
c.2323A>C (p.Ile775Leu)
c.2230A>C (p.Ile744Leu)
c.2149A>C (p.Ile717Leu)
c.2125A>C (p.Ile709Leu)
c.2032A>C (p.Ile678Leu)
c.1258A>C (p.Ile420Leu)
c.1171A>C (p.Ile391Leu)
c.1084A>C (p.Ile362Leu)
c.771+4402A>C (n.771+4402A>C)
n.891A>C
17g.46018680A>GCA399983766MAPTc.973A>G (p.Ile325Val)
c.886A>G (p.Ile296Val)
c.1060A>G (p.Ile354Val)
n.831A>G
n.286A>G
n.244A>G
n.478A>G
c.2236A>G (p.Ile746Val)
c.1945A>G (p.Ile649Val)
c.880A>G (p.Ile294Val)
c.1009A>G (p.Ile337Val)
c.2011A>G (p.Ile671Val)
c.793A>G (p.Ile265Val)
c.2065A>G (p.Ile689Val)
c.967A>G (p.Ile323Val)
n.839A>G
n.6252A>G
c.2323A>G (p.Ile775Val)
c.2230A>G (p.Ile744Val)
c.2149A>G (p.Ile717Val)
c.2125A>G (p.Ile709Val)
c.2032A>G (p.Ile678Val)
c.1258A>G (p.Ile420Val)
c.1171A>G (p.Ile391Val)
c.1084A>G (p.Ile362Val)
c.771+4402A>G (n.771+4402A>G)
n.891A>G
17g.46018680A>TCA399983769MAPTc.973A>T (p.Ile325Phe)
c.886A>T (p.Ile296Phe)
c.1060A>T (p.Ile354Phe)
n.831A>T
n.286A>T
n.244A>T
n.478A>T
c.2236A>T (p.Ile746Phe)
c.1945A>T (p.Ile649Phe)
c.880A>T (p.Ile294Phe)
c.1009A>T (p.Ile337Phe)
c.2011A>T (p.Ile671Phe)
c.793A>T (p.Ile265Phe)
c.2065A>T (p.Ile689Phe)
c.967A>T (p.Ile323Phe)
n.839A>T
n.6252A>T
c.2323A>T (p.Ile775Phe)
c.2230A>T (p.Ile744Phe)
c.2149A>T (p.Ile717Phe)
c.2125A>T (p.Ile709Phe)
c.2032A>T (p.Ile678Phe)
c.1258A>T (p.Ile420Phe)
c.1171A>T (p.Ile391Phe)
c.1084A>T (p.Ile362Phe)
c.771+4402A>T (n.771+4402A>T)
n.891A>T
17g.46018681T>ACA399983772MAPTc.974T>A (p.Ile325Asn)
c.887T>A (p.Ile296Asn)
c.1061T>A (p.Ile354Asn)
n.832T>A
n.287T>A
n.245T>A
n.479T>A
c.2237T>A (p.Ile746Asn)
c.1946T>A (p.Ile649Asn)
c.881T>A (p.Ile294Asn)
c.1010T>A (p.Ile337Asn)
c.2012T>A (p.Ile671Asn)
c.794T>A (p.Ile265Asn)
c.2066T>A (p.Ile689Asn)
c.968T>A (p.Ile323Asn)
n.840T>A
n.6253T>A
c.2324T>A (p.Ile775Asn)
c.2231T>A (p.Ile744Asn)
c.2150T>A (p.Ile717Asn)
c.2126T>A (p.Ile709Asn)
c.2033T>A (p.Ile678Asn)
c.1259T>A (p.Ile420Asn)
c.1172T>A (p.Ile391Asn)
c.1085T>A (p.Ile362Asn)
c.771+4403T>A (n.771+4403T>A)
n.892T>A
17g.46018681T>CCA8618227MAPTc.974T>C (p.Ile325Thr)
c.887T>C (p.Ile296Thr)
c.1061T>C (p.Ile354Thr)
n.832T>C
n.287T>C
n.245T>C
n.479T>C
c.2237T>C (p.Ile746Thr)
c.1946T>C (p.Ile649Thr)
c.881T>C (p.Ile294Thr)
c.1010T>C (p.Ile337Thr)
c.2012T>C (p.Ile671Thr)
c.794T>C (p.Ile265Thr)
c.2066T>C (p.Ile689Thr)
c.968T>C (p.Ile323Thr)
n.840T>C
n.6253T>C
c.2324T>C (p.Ile775Thr)
c.2231T>C (p.Ile744Thr)
c.2150T>C (p.Ile717Thr)
c.2126T>C (p.Ile709Thr)
c.2033T>C (p.Ile678Thr)
c.1259T>C (p.Ile420Thr)
c.1172T>C (p.Ile391Thr)
c.1085T>C (p.Ile362Thr)
c.771+4403T>C (n.771+4403T>C)
n.892T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46018681T>GCA399983775MAPTc.974T>G (p.Ile325Ser)
c.887T>G (p.Ile296Ser)
c.1061T>G (p.Ile354Ser)
n.832T>G
n.287T>G
n.245T>G
n.479T>G
c.2237T>G (p.Ile746Ser)
c.1946T>G (p.Ile649Ser)
c.881T>G (p.Ile294Ser)
c.1010T>G (p.Ile337Ser)
c.2012T>G (p.Ile671Ser)
c.794T>G (p.Ile265Ser)
c.2066T>G (p.Ile689Ser)
c.968T>G (p.Ile323Ser)
n.840T>G
n.6253T>G
c.2324T>G (p.Ile775Ser)
c.2231T>G (p.Ile744Ser)
c.2150T>G (p.Ile717Ser)
c.2126T>G (p.Ile709Ser)
c.2033T>G (p.Ile678Ser)
c.1259T>G (p.Ile420Ser)
c.1172T>G (p.Ile391Ser)
c.1085T>G (p.Ile362Ser)
c.771+4403T>G (n.771+4403T>G)
n.892T>G
17g.46018681T=CA2262104739MAPTc.974T= (p.Ile325=)
c.887T= (p.Ile296=)
c.1061T= (p.Ile354=)
n.832T=
n.287T=
n.245T=
n.479T=
c.2237T= (p.Ile746=)
c.1946T= (p.Ile649=)
c.881T= (p.Ile294=)
c.1010T= (p.Ile337=)
c.2012T= (p.Ile671=)
c.794T= (p.Ile265=)
c.2066T= (p.Ile689=)
c.968T= (p.Ile323=)
n.840T=
n.6253T=
c.2324T= (p.Ile775=)
c.2231T= (p.Ile744=)
c.2150T= (p.Ile717=)
c.2126T= (p.Ile709=)
c.2033T= (p.Ile678=)
c.1259T= (p.Ile420=)
c.1172T= (p.Ile391=)
c.1085T= (p.Ile362=)
c.771+4403T= (n.771+4403T=)
n.892T=
17g.46018681_46018738delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGGCA2262104740MAPTc.974_1023+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.887_936+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.1061_1110+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
n.287_336+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
n.245_294+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
n.479_528+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.2237_2286+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.1946_1995+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.881_930+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.1010_1059+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.2012_2061+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.794_843+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.2066_2115+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.968_1017+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
n.6253_6302+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.2324_2373+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.2231_2280+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.2150_2199+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.2126_2175+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.2033_2082+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.1259_1308+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.1172_1221+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.1085_1134+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
c.771+4403_771+4460delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG (n.771+4403_771+4460delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG)
n.892_941+8delinsTTGGGTCCCTGGACAATATCACCCACGTCCCTGGCGGAGGAAATAAAAAGGTAAAGGG
17g.46018682T>ACA500371259MAPTc.975T>A (p.Ile325=)
c.888T>A (p.Ile296=)
c.1062T>A (p.Ile354=)
n.833T>A
n.288T>A
n.246T>A
n.480T>A
c.2238T>A (p.Ile746=)
c.1947T>A (p.Ile649=)
c.882T>A (p.Ile294=)
c.1011T>A (p.Ile337=)
c.2013T>A (p.Ile671=)
c.795T>A (p.Ile265=)
c.2067T>A (p.Ile689=)
c.969T>A (p.Ile323=)
n.841T>A
n.6254T>A
c.2325T>A (p.Ile775=)
c.2232T>A (p.Ile744=)
c.2151T>A (p.Ile717=)
c.2127T>A (p.Ile709=)
c.2034T>A (p.Ile678=)
c.1260T>A (p.Ile420=)
c.1173T>A (p.Ile391=)
c.1086T>A (p.Ile362=)
c.771+4404T>A (n.771+4404T>A)
n.893T>A
17g.46018682T>CCA500371260MAPTc.975T>C (p.Ile325=)
c.888T>C (p.Ile296=)
c.1062T>C (p.Ile354=)
n.833T>C
n.288T>C
n.246T>C
n.480T>C
c.2238T>C (p.Ile746=)
c.1947T>C (p.Ile649=)
c.882T>C (p.Ile294=)
c.1011T>C (p.Ile337=)
c.2013T>C (p.Ile671=)
c.795T>C (p.Ile265=)
c.2067T>C (p.Ile689=)
c.969T>C (p.Ile323=)
n.841T>C
n.6254T>C
c.2325T>C (p.Ile775=)
c.2232T>C (p.Ile744=)
c.2151T>C (p.Ile717=)
c.2127T>C (p.Ile709=)
c.2034T>C (p.Ile678=)
c.1260T>C (p.Ile420=)
c.1173T>C (p.Ile391=)
c.1086T>C (p.Ile362=)
c.771+4404T>C (n.771+4404T>C)
n.893T>C
17g.46018682T>GCA399983777MAPTc.975T>G (p.Ile325Met)
c.888T>G (p.Ile296Met)
c.1062T>G (p.Ile354Met)
n.833T>G
n.288T>G
n.246T>G
n.480T>G
c.2238T>G (p.Ile746Met)
c.1947T>G (p.Ile649Met)
c.882T>G (p.Ile294Met)
c.1011T>G (p.Ile337Met)
c.2013T>G (p.Ile671Met)
c.795T>G (p.Ile265Met)
c.2067T>G (p.Ile689Met)
c.969T>G (p.Ile323Met)
n.841T>G
n.6254T>G
c.2325T>G (p.Ile775Met)
c.2232T>G (p.Ile744Met)
c.2151T>G (p.Ile717Met)
c.2127T>G (p.Ile709Met)
c.2034T>G (p.Ile678Met)
c.1260T>G (p.Ile420Met)
c.1173T>G (p.Ile391Met)
c.1086T>G (p.Ile362Met)
c.771+4404T>G (n.771+4404T>G)
n.893T>G
17g.46018682_46018738delCA8618228MAPTc.975_1023+8del
c.888_936+8del
c.1062_1110+8del
n.288_336+8del
n.246_294+8del
n.480_528+8del
c.2238_2286+8del
c.1947_1995+8del
c.882_930+8del
c.1011_1059+8del
c.2013_2061+8del
c.795_843+8del
c.2067_2115+8del
c.969_1017+8del
n.6254_6302+8del
c.2325_2373+8del
c.2232_2280+8del
c.2151_2199+8del
c.2127_2175+8del
c.2034_2082+8del
c.1260_1308+8del
c.1173_1221+8del
c.1086_1134+8del
c.771+4404_771+4460del (n.771+4404_771+4460del)
n.893_941+8del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46018683G>ACA399983780MAPTc.976G>A (p.Gly326Arg)
c.889G>A (p.Gly297Arg)
c.1063G>A (p.Gly355Arg)
n.834G>A
n.289G>A
n.247G>A
n.481G>A
c.2239G>A (p.Gly747Arg)
c.1948G>A (p.Gly650Arg)
c.883G>A (p.Gly295Arg)
c.1012G>A (p.Gly338Arg)
c.2014G>A (p.Gly672Arg)
c.796G>A (p.Gly266Arg)
c.2068G>A (p.Gly690Arg)
c.970G>A (p.Gly324Arg)
n.842G>A
n.6255G>A
c.2326G>A (p.Gly776Arg)
c.2233G>A (p.Gly745Arg)
c.2152G>A (p.Gly718Arg)
c.2128G>A (p.Gly710Arg)
c.2035G>A (p.Gly679Arg)
c.1261G>A (p.Gly421Arg)
c.1174G>A (p.Gly392Arg)
c.1087G>A (p.Gly363Arg)
c.771+4405G>A (n.771+4405G>A)
n.894G>A
 gnomAD v4
17g.46018683G>CCA399983781MAPTc.976G>C (p.Gly326Arg)
c.889G>C (p.Gly297Arg)
c.1063G>C (p.Gly355Arg)
n.834G>C
n.289G>C
n.247G>C
n.481G>C
c.2239G>C (p.Gly747Arg)
c.1948G>C (p.Gly650Arg)
c.883G>C (p.Gly295Arg)
c.1012G>C (p.Gly338Arg)
c.2014G>C (p.Gly672Arg)
c.796G>C (p.Gly266Arg)
c.2068G>C (p.Gly690Arg)
c.970G>C (p.Gly324Arg)
n.842G>C
n.6255G>C
c.2326G>C (p.Gly776Arg)
c.2233G>C (p.Gly745Arg)
c.2152G>C (p.Gly718Arg)
c.2128G>C (p.Gly710Arg)
c.2035G>C (p.Gly679Arg)
c.1261G>C (p.Gly421Arg)
c.1174G>C (p.Gly392Arg)
c.1087G>C (p.Gly363Arg)
c.771+4405G>C (n.771+4405G>C)
n.894G>C
17g.46018683G>TCA399983783MAPTc.976G>T (p.Gly326Trp)
c.889G>T (p.Gly297Trp)
c.1063G>T (p.Gly355Trp)
n.834G>T
n.289G>T
n.247G>T
n.481G>T
c.2239G>T (p.Gly747Trp)
c.1948G>T (p.Gly650Trp)
c.883G>T (p.Gly295Trp)
c.1012G>T (p.Gly338Trp)
c.2014G>T (p.Gly672Trp)
c.796G>T (p.Gly266Trp)
c.2068G>T (p.Gly690Trp)
c.970G>T (p.Gly324Trp)
n.842G>T
n.6255G>T
c.2326G>T (p.Gly776Trp)
c.2233G>T (p.Gly745Trp)
c.2152G>T (p.Gly718Trp)
c.2128G>T (p.Gly710Trp)
c.2035G>T (p.Gly679Trp)
c.1261G>T (p.Gly421Trp)
c.1174G>T (p.Gly392Trp)
c.1087G>T (p.Gly363Trp)
c.771+4405G>T (n.771+4405G>T)
n.894G>T
17g.46018684G>ACA399983786MAPTc.977G>A (p.Gly326Glu)
c.890G>A (p.Gly297Glu)
c.1064G>A (p.Gly355Glu)
n.835G>A
n.290G>A
n.248G>A
n.482G>A
c.2240G>A (p.Gly747Glu)
c.1949G>A (p.Gly650Glu)
c.884G>A (p.Gly295Glu)
c.1013G>A (p.Gly338Glu)
c.2015G>A (p.Gly672Glu)
c.797G>A (p.Gly266Glu)
c.2069G>A (p.Gly690Glu)
c.971G>A (p.Gly324Glu)
n.843G>A
n.6256G>A
c.2327G>A (p.Gly776Glu)
c.2234G>A (p.Gly745Glu)
c.2153G>A (p.Gly718Glu)
c.2129G>A (p.Gly710Glu)
c.2036G>A (p.Gly679Glu)
c.1262G>A (p.Gly421Glu)
c.1175G>A (p.Gly392Glu)
c.1088G>A (p.Gly363Glu)
c.771+4406G>A (n.771+4406G>A)
n.895G>A
17g.46018684G>CCA399983787MAPTc.977G>C (p.Gly326Ala)
c.890G>C (p.Gly297Ala)
c.1064G>C (p.Gly355Ala)
n.835G>C
n.290G>C
n.248G>C
n.482G>C
c.2240G>C (p.Gly747Ala)
c.1949G>C (p.Gly650Ala)
c.884G>C (p.Gly295Ala)
c.1013G>C (p.Gly338Ala)
c.2015G>C (p.Gly672Ala)
c.797G>C (p.Gly266Ala)
c.2069G>C (p.Gly690Ala)
c.971G>C (p.Gly324Ala)
n.843G>C
n.6256G>C
c.2327G>C (p.Gly776Ala)
c.2234G>C (p.Gly745Ala)
c.2153G>C (p.Gly718Ala)
c.2129G>C (p.Gly710Ala)
c.2036G>C (p.Gly679Ala)
c.1262G>C (p.Gly421Ala)
c.1175G>C (p.Gly392Ala)
c.1088G>C (p.Gly363Ala)
c.771+4406G>C (n.771+4406G>C)
n.895G>C
17g.46018684G=CA2262104741MAPTc.977G= (p.Gly326=)
c.890G= (p.Gly297=)
c.1064G= (p.Gly355=)
n.835G=
n.290G=
n.248G=
n.482G=
c.2240G= (p.Gly747=)
c.1949G= (p.Gly650=)
c.884G= (p.Gly295=)
c.1013G= (p.Gly338=)
c.2015G= (p.Gly672=)
c.797G= (p.Gly266=)
c.2069G= (p.Gly690=)
c.971G= (p.Gly324=)
n.843G=
n.6256G=
c.2327G= (p.Gly776=)
c.2234G= (p.Gly745=)
c.2153G= (p.Gly718=)
c.2129G= (p.Gly710=)
c.2036G= (p.Gly679=)
c.1262G= (p.Gly421=)
c.1175G= (p.Gly392=)
c.1088G= (p.Gly363=)
c.771+4406G= (n.771+4406G=)
n.895G=
17g.46018684G>TCA399983789MAPTc.977G>T (p.Gly326Val)
c.890G>T (p.Gly297Val)
c.1064G>T (p.Gly355Val)
n.835G>T
n.290G>T
n.248G>T
n.482G>T
c.2240G>T (p.Gly747Val)
c.1949G>T (p.Gly650Val)
c.884G>T (p.Gly295Val)
c.1013G>T (p.Gly338Val)
c.2015G>T (p.Gly672Val)
c.797G>T (p.Gly266Val)
c.2069G>T (p.Gly690Val)
c.971G>T (p.Gly324Val)
n.843G>T
n.6256G>T
c.2327G>T (p.Gly776Val)
c.2234G>T (p.Gly745Val)
c.2153G>T (p.Gly718Val)
c.2129G>T (p.Gly710Val)
c.2036G>T (p.Gly679Val)
c.1262G>T (p.Gly421Val)
c.1175G>T (p.Gly392Val)
c.1088G>T (p.Gly363Val)
c.771+4406G>T (n.771+4406G>T)
n.895G>T
 dbSNP gnomAD v2 gnomAD v4
17g.46018685G>ACA500371261MAPTc.978G>A (p.Gly326=)
c.891G>A (p.Gly297=)
c.1065G>A (p.Gly355=)
n.836G>A
n.291G>A
n.249G>A
n.483G>A
c.2241G>A (p.Gly747=)
c.1950G>A (p.Gly650=)
c.885G>A (p.Gly295=)
c.1014G>A (p.Gly338=)
c.2016G>A (p.Gly672=)
c.798G>A (p.Gly266=)
c.2070G>A (p.Gly690=)
c.972G>A (p.Gly324=)
n.844G>A
n.6257G>A
c.2328G>A (p.Gly776=)
c.2235G>A (p.Gly745=)
c.2154G>A (p.Gly718=)
c.2130G>A (p.Gly710=)
c.2037G>A (p.Gly679=)
c.1263G>A (p.Gly421=)
c.1176G>A (p.Gly392=)
c.1089G>A (p.Gly363=)
c.771+4407G>A (n.771+4407G>A)
n.896G>A
17g.46018685G>CCA500371263MAPTc.978G>C (p.Gly326=)
c.891G>C (p.Gly297=)
c.1065G>C (p.Gly355=)
n.836G>C
n.291G>C
n.249G>C
n.483G>C
c.2241G>C (p.Gly747=)
c.1950G>C (p.Gly650=)
c.885G>C (p.Gly295=)
c.1014G>C (p.Gly338=)
c.2016G>C (p.Gly672=)
c.798G>C (p.Gly266=)
c.2070G>C (p.Gly690=)
c.972G>C (p.Gly324=)
n.844G>C
n.6257G>C
c.2328G>C (p.Gly776=)
c.2235G>C (p.Gly745=)
c.2154G>C (p.Gly718=)
c.2130G>C (p.Gly710=)
c.2037G>C (p.Gly679=)
c.1263G>C (p.Gly421=)
c.1176G>C (p.Gly392=)
c.1089G>C (p.Gly363=)
c.771+4407G>C (n.771+4407G>C)
n.896G>C
17g.46018685G>TCA500371262MAPTc.978G>T (p.Gly326=)
c.891G>T (p.Gly297=)
c.1065G>T (p.Gly355=)
n.836G>T
n.291G>T
n.249G>T
n.483G>T
c.2241G>T (p.Gly747=)
c.1950G>T (p.Gly650=)
c.885G>T (p.Gly295=)
c.1014G>T (p.Gly338=)
c.2016G>T (p.Gly672=)
c.798G>T (p.Gly266=)
c.2070G>T (p.Gly690=)
c.972G>T (p.Gly324=)
n.844G>T
n.6257G>T
c.2328G>T (p.Gly776=)
c.2235G>T (p.Gly745=)
c.2154G>T (p.Gly718=)
c.2130G>T (p.Gly710=)
c.2037G>T (p.Gly679=)
c.1263G>T (p.Gly421=)
c.1176G>T (p.Gly392=)
c.1089G>T (p.Gly363=)
c.771+4407G>T (n.771+4407G>T)
n.896G>T
17g.46018686T>ACA399983795MAPTc.979T>A (p.Ser327Thr)
c.892T>A (p.Ser298Thr)
c.1066T>A (p.Ser356Thr)
n.837T>A
n.292T>A
n.250T>A
n.484T>A
c.2242T>A (p.Ser748Thr)
c.1951T>A (p.Ser651Thr)
c.886T>A (p.Ser296Thr)
c.1015T>A (p.Ser339Thr)
c.2017T>A (p.Ser673Thr)
c.799T>A (p.Ser267Thr)
c.2071T>A (p.Ser691Thr)
c.973T>A (p.Ser325Thr)
n.845T>A
n.6258T>A
c.2329T>A (p.Ser777Thr)
c.2236T>A (p.Ser746Thr)
c.2155T>A (p.Ser719Thr)
c.2131T>A (p.Ser711Thr)
c.2038T>A (p.Ser680Thr)
c.1264T>A (p.Ser422Thr)
c.1177T>A (p.Ser393Thr)
c.1090T>A (p.Ser364Thr)
c.771+4408T>A (n.771+4408T>A)
n.897T>A
 ClinVar dbSNP
17g.46018686T>CCA399983792MAPTc.979T>C (p.Ser327Pro)
c.892T>C (p.Ser298Pro)
c.1066T>C (p.Ser356Pro)
n.837T>C
n.292T>C
n.250T>C
n.484T>C
c.2242T>C (p.Ser748Pro)
c.1951T>C (p.Ser651Pro)
c.886T>C (p.Ser296Pro)
c.1015T>C (p.Ser339Pro)
c.2017T>C (p.Ser673Pro)
c.799T>C (p.Ser267Pro)
c.2071T>C (p.Ser691Pro)
c.973T>C (p.Ser325Pro)
n.845T>C
n.6258T>C
c.2329T>C (p.Ser777Pro)
c.2236T>C (p.Ser746Pro)
c.2155T>C (p.Ser719Pro)
c.2131T>C (p.Ser711Pro)
c.2038T>C (p.Ser680Pro)
c.1264T>C (p.Ser422Pro)
c.1177T>C (p.Ser393Pro)
c.1090T>C (p.Ser364Pro)
c.771+4408T>C (n.771+4408T>C)
n.897T>C
17g.46018686T>GCA399983793MAPTc.979T>G (p.Ser327Ala)
c.892T>G (p.Ser298Ala)
c.1066T>G (p.Ser356Ala)
n.837T>G
n.292T>G
n.250T>G
n.484T>G
c.2242T>G (p.Ser748Ala)
c.1951T>G (p.Ser651Ala)
c.886T>G (p.Ser296Ala)
c.1015T>G (p.Ser339Ala)
c.2017T>G (p.Ser673Ala)
c.799T>G (p.Ser267Ala)
c.2071T>G (p.Ser691Ala)
c.973T>G (p.Ser325Ala)
n.845T>G
n.6258T>G
c.2329T>G (p.Ser777Ala)
c.2236T>G (p.Ser746Ala)
c.2155T>G (p.Ser719Ala)
c.2131T>G (p.Ser711Ala)
c.2038T>G (p.Ser680Ala)
c.1264T>G (p.Ser422Ala)
c.1177T>G (p.Ser393Ala)
c.1090T>G (p.Ser364Ala)
c.771+4408T>G (n.771+4408T>G)
n.897T>G
17g.46018686T=CA2262104742MAPTc.979T= (p.Ser327=)
c.892T= (p.Ser298=)
c.1066T= (p.Ser356=)
n.837T=
n.292T=
n.250T=
n.484T=
c.2242T= (p.Ser748=)
c.1951T= (p.Ser651=)
c.886T= (p.Ser296=)
c.1015T= (p.Ser339=)
c.2017T= (p.Ser673=)
c.799T= (p.Ser267=)
c.2071T= (p.Ser691=)
c.973T= (p.Ser325=)
n.845T=
n.6258T=
c.2329T= (p.Ser777=)
c.2236T= (p.Ser746=)
c.2155T= (p.Ser719=)
c.2131T= (p.Ser711=)
c.2038T= (p.Ser680=)
c.1264T= (p.Ser422=)
c.1177T= (p.Ser393=)
c.1090T= (p.Ser364=)
c.771+4408T= (n.771+4408T=)
n.897T=
17g.46018687C>ACA399983797MAPTc.980C>A (p.Ser327Tyr)
c.893C>A (p.Ser298Tyr)
c.1067C>A (p.Ser356Tyr)
n.838C>A
n.293C>A
n.251C>A
n.485C>A
c.2243C>A (p.Ser748Tyr)
c.1952C>A (p.Ser651Tyr)
c.887C>A (p.Ser296Tyr)
c.1016C>A (p.Ser339Tyr)
c.2018C>A (p.Ser673Tyr)
c.800C>A (p.Ser267Tyr)
c.2072C>A (p.Ser691Tyr)
c.974C>A (p.Ser325Tyr)
n.846C>A
n.6259C>A
c.2330C>A (p.Ser777Tyr)
c.2237C>A (p.Ser746Tyr)
c.2156C>A (p.Ser719Tyr)
c.2132C>A (p.Ser711Tyr)
c.2039C>A (p.Ser680Tyr)
c.1265C>A (p.Ser422Tyr)
c.1178C>A (p.Ser393Tyr)
c.1091C>A (p.Ser364Tyr)
c.771+4409C>A (n.771+4409C>A)
n.898C>A
17g.46018687C>GCA399983799MAPTc.980C>G (p.Ser327Cys)
c.893C>G (p.Ser298Cys)
c.1067C>G (p.Ser356Cys)
n.838C>G
n.293C>G
n.251C>G
n.485C>G
c.2243C>G (p.Ser748Cys)
c.1952C>G (p.Ser651Cys)
c.887C>G (p.Ser296Cys)
c.1016C>G (p.Ser339Cys)
c.2018C>G (p.Ser673Cys)
c.800C>G (p.Ser267Cys)
c.2072C>G (p.Ser691Cys)
c.974C>G (p.Ser325Cys)
n.846C>G
n.6259C>G
c.2330C>G (p.Ser777Cys)
c.2237C>G (p.Ser746Cys)
c.2156C>G (p.Ser719Cys)
c.2132C>G (p.Ser711Cys)
c.2039C>G (p.Ser680Cys)
c.1265C>G (p.Ser422Cys)
c.1178C>G (p.Ser393Cys)
c.1091C>G (p.Ser364Cys)
c.771+4409C>G (n.771+4409C>G)
n.898C>G
17g.46018687C>TCA399983801MAPTc.980C>T (p.Ser327Phe)
c.893C>T (p.Ser298Phe)
c.1067C>T (p.Ser356Phe)
n.838C>T
n.293C>T
n.251C>T
n.485C>T
c.2243C>T (p.Ser748Phe)
c.1952C>T (p.Ser651Phe)
c.887C>T (p.Ser296Phe)
c.1016C>T (p.Ser339Phe)
c.2018C>T (p.Ser673Phe)
c.800C>T (p.Ser267Phe)
c.2072C>T (p.Ser691Phe)
c.974C>T (p.Ser325Phe)
n.846C>T
n.6259C>T
c.2330C>T (p.Ser777Phe)
c.2237C>T (p.Ser746Phe)
c.2156C>T (p.Ser719Phe)
c.2132C>T (p.Ser711Phe)
c.2039C>T (p.Ser680Phe)
c.1265C>T (p.Ser422Phe)
c.1178C>T (p.Ser393Phe)
c.1091C>T (p.Ser364Phe)
c.771+4409C>T (n.771+4409C>T)
n.898C>T
17g.46018688C>ACA500371265MAPTc.981C>A (p.Ser327=)
c.894C>A (p.Ser298=)
c.1068C>A (p.Ser356=)
n.839C>A
n.294C>A
n.252C>A
n.486C>A
c.2244C>A (p.Ser748=)
c.1953C>A (p.Ser651=)
c.888C>A (p.Ser296=)
c.1017C>A (p.Ser339=)
c.2019C>A (p.Ser673=)
c.801C>A (p.Ser267=)
c.2073C>A (p.Ser691=)
c.975C>A (p.Ser325=)
n.847C>A
n.6260C>A
c.2331C>A (p.Ser777=)
c.2238C>A (p.Ser746=)
c.2157C>A (p.Ser719=)
c.2133C>A (p.Ser711=)
c.2040C>A (p.Ser680=)
c.1266C>A (p.Ser422=)
c.1179C>A (p.Ser393=)
c.1092C>A (p.Ser364=)
c.771+4410C>A (n.771+4410C>A)
n.899C>A
17g.46018688C>GCA500371266MAPTc.981C>G (p.Ser327=)
c.894C>G (p.Ser298=)
c.1068C>G (p.Ser356=)
n.839C>G
n.294C>G
n.252C>G
n.486C>G
c.2244C>G (p.Ser748=)
c.1953C>G (p.Ser651=)
c.888C>G (p.Ser296=)
c.1017C>G (p.Ser339=)
c.2019C>G (p.Ser673=)
c.801C>G (p.Ser267=)
c.2073C>G (p.Ser691=)
c.975C>G (p.Ser325=)
n.847C>G
n.6260C>G
c.2331C>G (p.Ser777=)
c.2238C>G (p.Ser746=)
c.2157C>G (p.Ser719=)
c.2133C>G (p.Ser711=)
c.2040C>G (p.Ser680=)
c.1266C>G (p.Ser422=)
c.1179C>G (p.Ser393=)
c.1092C>G (p.Ser364=)
c.771+4410C>G (n.771+4410C>G)
n.899C>G
17g.46018688C>TCA500371264MAPTc.981C>T (p.Ser327=)
c.894C>T (p.Ser298=)
c.1068C>T (p.Ser356=)
n.839C>T
n.294C>T
n.252C>T
n.486C>T
c.2244C>T (p.Ser748=)
c.1953C>T (p.Ser651=)
c.888C>T (p.Ser296=)
c.1017C>T (p.Ser339=)
c.2019C>T (p.Ser673=)
c.801C>T (p.Ser267=)
c.2073C>T (p.Ser691=)
c.975C>T (p.Ser325=)
n.847C>T
n.6260C>T
c.2331C>T (p.Ser777=)
c.2238C>T (p.Ser746=)
c.2157C>T (p.Ser719=)
c.2133C>T (p.Ser711=)
c.2040C>T (p.Ser680=)
c.1266C>T (p.Ser422=)
c.1179C>T (p.Ser393=)
c.1092C>T (p.Ser364=)
c.771+4410C>T (n.771+4410C>T)
n.899C>T
17g.46018689C>ACA399983803MAPTc.982C>A (p.Leu328Met)
c.895C>A (p.Leu299Met)
c.1069C>A (p.Leu357Met)
n.840C>A
n.295C>A
n.253C>A
n.487C>A
c.2245C>A (p.Leu749Met)
c.1954C>A (p.Leu652Met)
c.889C>A (p.Leu297Met)
c.1018C>A (p.Leu340Met)
c.2020C>A (p.Leu674Met)
c.802C>A (p.Leu268Met)
c.2074C>A (p.Leu692Met)
c.976C>A (p.Leu326Met)
n.848C>A
n.6261C>A
c.2332C>A (p.Leu778Met)
c.2239C>A (p.Leu747Met)
c.2158C>A (p.Leu720Met)
c.2134C>A (p.Leu712Met)
c.2041C>A (p.Leu681Met)
c.1267C>A (p.Leu423Met)
c.1180C>A (p.Leu394Met)
c.1093C>A (p.Leu365Met)
c.771+4411C>A (n.771+4411C>A)
n.900C>A
17g.46018689C=CA2262104743MAPTc.982C= (p.Leu328=)
c.895C= (p.Leu299=)
c.1069C= (p.Leu357=)
n.840C=
n.295C=
n.253C=
n.487C=
c.2245C= (p.Leu749=)
c.1954C= (p.Leu652=)
c.889C= (p.Leu297=)
c.1018C= (p.Leu340=)
c.2020C= (p.Leu674=)
c.802C= (p.Leu268=)
c.2074C= (p.Leu692=)
c.976C= (p.Leu326=)
n.848C=
n.6261C=
c.2332C= (p.Leu778=)
c.2239C= (p.Leu747=)
c.2158C= (p.Leu720=)
c.2134C= (p.Leu712=)
c.2041C= (p.Leu681=)
c.1267C= (p.Leu423=)
c.1180C= (p.Leu394=)
c.1093C= (p.Leu365=)
c.771+4411C= (n.771+4411C=)
n.900C=
17g.46018689C>GCA399983804MAPTc.982C>G (p.Leu328Val)
c.895C>G (p.Leu299Val)
c.1069C>G (p.Leu357Val)
n.840C>G
n.295C>G
n.253C>G
n.487C>G
c.2245C>G (p.Leu749Val)
c.1954C>G (p.Leu652Val)
c.889C>G (p.Leu297Val)
c.1018C>G (p.Leu340Val)
c.2020C>G (p.Leu674Val)
c.802C>G (p.Leu268Val)
c.2074C>G (p.Leu692Val)
c.976C>G (p.Leu326Val)
n.848C>G
n.6261C>G
c.2332C>G (p.Leu778Val)
c.2239C>G (p.Leu747Val)
c.2158C>G (p.Leu720Val)
c.2134C>G (p.Leu712Val)
c.2041C>G (p.Leu681Val)
c.1267C>G (p.Leu423Val)
c.1180C>G (p.Leu394Val)
c.1093C>G (p.Leu365Val)
c.771+4411C>G (n.771+4411C>G)
n.900C>G
17g.46018689C>TCA500371267MAPTc.982C>T (p.Leu328=)
c.895C>T (p.Leu299=)
c.1069C>T (p.Leu357=)
n.840C>T
n.295C>T
n.253C>T
n.487C>T
c.2245C>T (p.Leu749=)
c.1954C>T (p.Leu652=)
c.889C>T (p.Leu297=)
c.1018C>T (p.Leu340=)
c.2020C>T (p.Leu674=)
c.802C>T (p.Leu268=)
c.2074C>T (p.Leu692=)
c.976C>T (p.Leu326=)
n.848C>T
n.6261C>T
c.2332C>T (p.Leu778=)
c.2239C>T (p.Leu747=)
c.2158C>T (p.Leu720=)
c.2134C>T (p.Leu712=)
c.2041C>T (p.Leu681=)
c.1267C>T (p.Leu423=)
c.1180C>T (p.Leu394=)
c.1093C>T (p.Leu365=)
c.771+4411C>T (n.771+4411C>T)
n.900C>T
 dbSNP
17g.46018690T>ACA399983807MAPTc.983T>A (p.Leu328Gln)
c.896T>A (p.Leu299Gln)
c.1070T>A (p.Leu357Gln)
n.841T>A
n.296T>A
n.254T>A
n.488T>A
c.2246T>A (p.Leu749Gln)
c.1955T>A (p.Leu652Gln)
c.890T>A (p.Leu297Gln)
c.1019T>A (p.Leu340Gln)
c.2021T>A (p.Leu674Gln)
c.803T>A (p.Leu268Gln)
c.2075T>A (p.Leu692Gln)
c.977T>A (p.Leu326Gln)
n.849T>A
n.6262T>A
c.2333T>A (p.Leu778Gln)
c.2240T>A (p.Leu747Gln)
c.2159T>A (p.Leu720Gln)
c.2135T>A (p.Leu712Gln)
c.2042T>A (p.Leu681Gln)
c.1268T>A (p.Leu423Gln)
c.1181T>A (p.Leu394Gln)
c.1094T>A (p.Leu365Gln)
c.771+4412T>A (n.771+4412T>A)
n.901T>A
 COSMIC COSMIC
17g.46018690T>CCA399983809MAPTc.983T>C (p.Leu328Pro)
c.896T>C (p.Leu299Pro)
c.1070T>C (p.Leu357Pro)
n.841T>C
n.296T>C
n.254T>C
n.488T>C
c.2246T>C (p.Leu749Pro)
c.1955T>C (p.Leu652Pro)
c.890T>C (p.Leu297Pro)
c.1019T>C (p.Leu340Pro)
c.2021T>C (p.Leu674Pro)
c.803T>C (p.Leu268Pro)
c.2075T>C (p.Leu692Pro)
c.977T>C (p.Leu326Pro)
n.849T>C
n.6262T>C
c.2333T>C (p.Leu778Pro)
c.2240T>C (p.Leu747Pro)
c.2159T>C (p.Leu720Pro)
c.2135T>C (p.Leu712Pro)
c.2042T>C (p.Leu681Pro)
c.1268T>C (p.Leu423Pro)
c.1181T>C (p.Leu394Pro)
c.1094T>C (p.Leu365Pro)
c.771+4412T>C (n.771+4412T>C)
n.901T>C
17g.46018690T>GCA399983810MAPTc.983T>G (p.Leu328Arg)
c.896T>G (p.Leu299Arg)
c.1070T>G (p.Leu357Arg)
n.841T>G
n.296T>G
n.254T>G
n.488T>G
c.2246T>G (p.Leu749Arg)
c.1955T>G (p.Leu652Arg)
c.890T>G (p.Leu297Arg)
c.1019T>G (p.Leu340Arg)
c.2021T>G (p.Leu674Arg)
c.803T>G (p.Leu268Arg)
c.2075T>G (p.Leu692Arg)
c.977T>G (p.Leu326Arg)
n.849T>G
n.6262T>G
c.2333T>G (p.Leu778Arg)
c.2240T>G (p.Leu747Arg)
c.2159T>G (p.Leu720Arg)
c.2135T>G (p.Leu712Arg)
c.2042T>G (p.Leu681Arg)
c.1268T>G (p.Leu423Arg)
c.1181T>G (p.Leu394Arg)
c.1094T>G (p.Leu365Arg)
c.771+4412T>G (n.771+4412T>G)
n.901T>G
17g.46018691G>ACA500371270MAPTc.984G>A (p.Leu328=)
c.897G>A (p.Leu299=)
c.1071G>A (p.Leu357=)
n.842G>A
n.297G>A
n.255G>A
n.489G>A
c.2247G>A (p.Leu749=)
c.1956G>A (p.Leu652=)
c.891G>A (p.Leu297=)
c.1020G>A (p.Leu340=)
c.2022G>A (p.Leu674=)
c.804G>A (p.Leu268=)
c.2076G>A (p.Leu692=)
c.978G>A (p.Leu326=)
n.850G>A
n.6263G>A
c.2334G>A (p.Leu778=)
c.2241G>A (p.Leu747=)
c.2160G>A (p.Leu720=)
c.2136G>A (p.Leu712=)
c.2043G>A (p.Leu681=)
c.1269G>A (p.Leu423=)
c.1182G>A (p.Leu394=)
c.1095G>A (p.Leu365=)
c.771+4413G>A (n.771+4413G>A)
n.902G>A
 gnomAD v4
17g.46018691G>CCA500371268MAPTc.984G>C (p.Leu328=)
c.897G>C (p.Leu299=)
c.1071G>C (p.Leu357=)
n.842G>C
n.297G>C
n.255G>C
n.489G>C
c.2247G>C (p.Leu749=)
c.1956G>C (p.Leu652=)
c.891G>C (p.Leu297=)
c.1020G>C (p.Leu340=)
c.2022G>C (p.Leu674=)
c.804G>C (p.Leu268=)
c.2076G>C (p.Leu692=)
c.978G>C (p.Leu326=)
n.850G>C
n.6263G>C
c.2334G>C (p.Leu778=)
c.2241G>C (p.Leu747=)
c.2160G>C (p.Leu720=)
c.2136G>C (p.Leu712=)
c.2043G>C (p.Leu681=)
c.1269G>C (p.Leu423=)
c.1182G>C (p.Leu394=)
c.1095G>C (p.Leu365=)
c.771+4413G>C (n.771+4413G>C)
n.902G>C
17g.46018691G>TCA500371269MAPTc.984G>T (p.Leu328=)
c.897G>T (p.Leu299=)
c.1071G>T (p.Leu357=)
n.842G>T
n.297G>T
n.255G>T
n.489G>T
c.2247G>T (p.Leu749=)
c.1956G>T (p.Leu652=)
c.891G>T (p.Leu297=)
c.1020G>T (p.Leu340=)
c.2022G>T (p.Leu674=)
c.804G>T (p.Leu268=)
c.2076G>T (p.Leu692=)
c.978G>T (p.Leu326=)
n.850G>T
n.6263G>T
c.2334G>T (p.Leu778=)
c.2241G>T (p.Leu747=)
c.2160G>T (p.Leu720=)
c.2136G>T (p.Leu712=)
c.2043G>T (p.Leu681=)
c.1269G>T (p.Leu423=)
c.1182G>T (p.Leu394=)
c.1095G>T (p.Leu365=)
c.771+4413G>T (n.771+4413G>T)
n.902G>T
17g.46018692G>ACA399983812MAPTc.985G>A (p.Asp329Asn)
c.898G>A (p.Asp300Asn)
c.1072G>A (p.Asp358Asn)
n.843G>A
n.298G>A
n.256G>A
n.490G>A
c.2248G>A (p.Asp750Asn)
c.1957G>A (p.Asp653Asn)
c.892G>A (p.Asp298Asn)
c.1021G>A (p.Asp341Asn)
c.2023G>A (p.Asp675Asn)
c.805G>A (p.Asp269Asn)
c.2077G>A (p.Asp693Asn)
c.979G>A (p.Asp327Asn)
n.851G>A
n.6264G>A
c.2335G>A (p.Asp779Asn)
c.2242G>A (p.Asp748Asn)
c.2161G>A (p.Asp721Asn)
c.2137G>A (p.Asp713Asn)
c.2044G>A (p.Asp682Asn)
c.1270G>A (p.Asp424Asn)
c.1183G>A (p.Asp395Asn)
c.1096G>A (p.Asp366Asn)
c.771+4414G>A (n.771+4414G>A)
n.903G>A
 gnomAD v4
17g.46018692G>CCA399983814MAPTc.985G>C (p.Asp329His)
c.898G>C (p.Asp300His)
c.1072G>C (p.Asp358His)
n.843G>C
n.298G>C
n.256G>C
n.490G>C
c.2248G>C (p.Asp750His)
c.1957G>C (p.Asp653His)
c.892G>C (p.Asp298His)
c.1021G>C (p.Asp341His)
c.2023G>C (p.Asp675His)
c.805G>C (p.Asp269His)
c.2077G>C (p.Asp693His)
c.979G>C (p.Asp327His)
n.851G>C
n.6264G>C
c.2335G>C (p.Asp779His)
c.2242G>C (p.Asp748His)
c.2161G>C (p.Asp721His)
c.2137G>C (p.Asp713His)
c.2044G>C (p.Asp682His)
c.1270G>C (p.Asp424His)
c.1183G>C (p.Asp395His)
c.1096G>C (p.Asp366His)
c.771+4414G>C (n.771+4414G>C)
n.903G>C
17g.46018692G>TCA399983816MAPTc.985G>T (p.Asp329Tyr)
c.898G>T (p.Asp300Tyr)
c.1072G>T (p.Asp358Tyr)
n.843G>T
n.298G>T
n.256G>T
n.490G>T
c.2248G>T (p.Asp750Tyr)
c.1957G>T (p.Asp653Tyr)
c.892G>T (p.Asp298Tyr)
c.1021G>T (p.Asp341Tyr)
c.2023G>T (p.Asp675Tyr)
c.805G>T (p.Asp269Tyr)
c.2077G>T (p.Asp693Tyr)
c.979G>T (p.Asp327Tyr)
n.851G>T
n.6264G>T
c.2335G>T (p.Asp779Tyr)
c.2242G>T (p.Asp748Tyr)
c.2161G>T (p.Asp721Tyr)
c.2137G>T (p.Asp713Tyr)
c.2044G>T (p.Asp682Tyr)
c.1270G>T (p.Asp424Tyr)
c.1183G>T (p.Asp395Tyr)
c.1096G>T (p.Asp366Tyr)
c.771+4414G>T (n.771+4414G>T)
n.903G>T
17g.46018693A=CA2262104744MAPTc.986A= (p.Asp329=)
c.899A= (p.Asp300=)
c.1073A= (p.Asp358=)
n.844A=
n.299A=
n.257A=
n.491A=
c.2249A= (p.Asp750=)
c.1958A= (p.Asp653=)
c.893A= (p.Asp298=)
c.1022A= (p.Asp341=)
c.2024A= (p.Asp675=)
c.806A= (p.Asp269=)
c.2078A= (p.Asp693=)
c.980A= (p.Asp327=)
n.852A=
n.6265A=
c.2336A= (p.Asp779=)
c.2243A= (p.Asp748=)
c.2162A= (p.Asp721=)
c.2138A= (p.Asp713=)
c.2045A= (p.Asp682=)
c.1271A= (p.Asp424=)
c.1184A= (p.Asp395=)
c.1097A= (p.Asp366=)
c.771+4415A= (n.771+4415A=)
n.904A=
17g.46018693A>CCA399983820MAPTc.986A>C (p.Asp329Ala)
c.899A>C (p.Asp300Ala)
c.1073A>C (p.Asp358Ala)
n.844A>C
n.299A>C
n.257A>C
n.491A>C
c.2249A>C (p.Asp750Ala)
c.1958A>C (p.Asp653Ala)
c.893A>C (p.Asp298Ala)
c.1022A>C (p.Asp341Ala)
c.2024A>C (p.Asp675Ala)
c.806A>C (p.Asp269Ala)
c.2078A>C (p.Asp693Ala)
c.980A>C (p.Asp327Ala)
n.852A>C
n.6265A>C
c.2336A>C (p.Asp779Ala)
c.2243A>C (p.Asp748Ala)
c.2162A>C (p.Asp721Ala)
c.2138A>C (p.Asp713Ala)
c.2045A>C (p.Asp682Ala)
c.1271A>C (p.Asp424Ala)
c.1184A>C (p.Asp395Ala)
c.1097A>C (p.Asp366Ala)
c.771+4415A>C (n.771+4415A>C)
n.904A>C
17g.46018693A>GCA8618229MAPTc.986A>G (p.Asp329Gly)
c.899A>G (p.Asp300Gly)
c.1073A>G (p.Asp358Gly)
n.844A>G
n.299A>G
n.257A>G
n.491A>G
c.2249A>G (p.Asp750Gly)
c.1958A>G (p.Asp653Gly)
c.893A>G (p.Asp298Gly)
c.1022A>G (p.Asp341Gly)
c.2024A>G (p.Asp675Gly)
c.806A>G (p.Asp269Gly)
c.2078A>G (p.Asp693Gly)
c.980A>G (p.Asp327Gly)
n.852A>G
n.6265A>G
c.2336A>G (p.Asp779Gly)
c.2243A>G (p.Asp748Gly)
c.2162A>G (p.Asp721Gly)
c.2138A>G (p.Asp713Gly)
c.2045A>G (p.Asp682Gly)
c.1271A>G (p.Asp424Gly)
c.1184A>G (p.Asp395Gly)
c.1097A>G (p.Asp366Gly)
c.771+4415A>G (n.771+4415A>G)
n.904A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46018693A>TCA399983818MAPTc.986A>T (p.Asp329Val)
c.899A>T (p.Asp300Val)
c.1073A>T (p.Asp358Val)
n.844A>T
n.299A>T
n.257A>T
n.491A>T
c.2249A>T (p.Asp750Val)
c.1958A>T (p.Asp653Val)
c.893A>T (p.Asp298Val)
c.1022A>T (p.Asp341Val)
c.2024A>T (p.Asp675Val)
c.806A>T (p.Asp269Val)
c.2078A>T (p.Asp693Val)
c.980A>T (p.Asp327Val)
n.852A>T
n.6265A>T
c.2336A>T (p.Asp779Val)
c.2243A>T (p.Asp748Val)
c.2162A>T (p.Asp721Val)
c.2138A>T (p.Asp713Val)
c.2045A>T (p.Asp682Val)
c.1271A>T (p.Asp424Val)
c.1184A>T (p.Asp395Val)
c.1097A>T (p.Asp366Val)
c.771+4415A>T (n.771+4415A>T)
n.904A>T
17g.46018694delCA2576299048MAPTc.987del (p.Asp329GlufsTer19)
c.900del (p.Asp300GlufsTer19)
c.1074del (p.Asp358GlufsTer19)
n.845del
n.300del
n.258del
n.492del
c.2250del (p.Asp750GlufsTer19)
c.1959del (p.Asp653GlufsTer19)
c.894del (p.Asp298GlufsTer19)
c.1023del (p.Asp341GlufsTer19)
c.2025del (p.Asp675GlufsTer19)
c.807del (p.Asp269GlufsTer19)
c.2079del (p.Asp693GlufsTer19)
c.981del (p.Asp327GlufsTer19)
n.853del
n.6266del
c.2337del (p.Asp779GlufsTer19)
c.2244del (p.Asp748GlufsTer19)
c.2163del (p.Asp721GlufsTer19)
c.2139del (p.Asp713GlufsTer19)
c.2046del (p.Asp682GlufsTer19)
c.1272del (p.Asp424GlufsTer19)
c.1185del (p.Asp395GlufsTer19)
c.1098del (p.Asp366GlufsTer19)
c.771+4416del (n.771+4416del)
n.905del
17g.46018694C>ACA399983821MAPTc.987C>A (p.Asp329Glu)
c.900C>A (p.Asp300Glu)
c.1074C>A (p.Asp358Glu)
n.845C>A
n.300C>A
n.258C>A
n.492C>A
c.2250C>A (p.Asp750Glu)
c.1959C>A (p.Asp653Glu)
c.894C>A (p.Asp298Glu)
c.1023C>A (p.Asp341Glu)
c.2025C>A (p.Asp675Glu)
c.807C>A (p.Asp269Glu)
c.2079C>A (p.Asp693Glu)
c.981C>A (p.Asp327Glu)
n.853C>A
n.6266C>A
c.2337C>A (p.Asp779Glu)
c.2244C>A (p.Asp748Glu)
c.2163C>A (p.Asp721Glu)
c.2139C>A (p.Asp713Glu)
c.2046C>A (p.Asp682Glu)
c.1272C>A (p.Asp424Glu)
c.1185C>A (p.Asp395Glu)
c.1098C>A (p.Asp366Glu)
c.771+4416C>A (n.771+4416C>A)
n.905C>A
17g.46018694C=CA2262104745MAPTc.987C= (p.Asp329=)
c.900C= (p.Asp300=)
c.1074C= (p.Asp358=)
n.845C=
n.300C=
n.258C=
n.492C=
c.2250C= (p.Asp750=)
c.1959C= (p.Asp653=)
c.894C= (p.Asp298=)
c.1023C= (p.Asp341=)
c.2025C= (p.Asp675=)
c.807C= (p.Asp269=)
c.2079C= (p.Asp693=)
c.981C= (p.Asp327=)
n.853C=
n.6266C=
c.2337C= (p.Asp779=)
c.2244C= (p.Asp748=)
c.2163C= (p.Asp721=)
c.2139C= (p.Asp713=)
c.2046C= (p.Asp682=)
c.1272C= (p.Asp424=)
c.1185C= (p.Asp395=)
c.1098C= (p.Asp366=)
c.771+4416C= (n.771+4416C=)
n.905C=
17g.46018694C>GCA399983823MAPTc.987C>G (p.Asp329Glu)
c.900C>G (p.Asp300Glu)
c.1074C>G (p.Asp358Glu)
n.845C>G
n.300C>G
n.258C>G
n.492C>G
c.2250C>G (p.Asp750Glu)
c.1959C>G (p.Asp653Glu)
c.894C>G (p.Asp298Glu)
c.1023C>G (p.Asp341Glu)
c.2025C>G (p.Asp675Glu)
c.807C>G (p.Asp269Glu)
c.2079C>G (p.Asp693Glu)
c.981C>G (p.Asp327Glu)
n.853C>G
n.6266C>G
c.2337C>G (p.Asp779Glu)
c.2244C>G (p.Asp748Glu)
c.2163C>G (p.Asp721Glu)
c.2139C>G (p.Asp713Glu)
c.2046C>G (p.Asp682Glu)
c.1272C>G (p.Asp424Glu)
c.1185C>G (p.Asp395Glu)
c.1098C>G (p.Asp366Glu)
c.771+4416C>G (n.771+4416C>G)
n.905C>G
17g.46018694C>TCA500371271MAPTc.987C>T (p.Asp329=)
c.900C>T (p.Asp300=)
c.1074C>T (p.Asp358=)
n.845C>T
n.300C>T
n.258C>T
n.492C>T
c.2250C>T (p.Asp750=)
c.1959C>T (p.Asp653=)
c.894C>T (p.Asp298=)
c.1023C>T (p.Asp341=)
c.2025C>T (p.Asp675=)
c.807C>T (p.Asp269=)
c.2079C>T (p.Asp693=)
c.981C>T (p.Asp327=)
n.853C>T
n.6266C>T
c.2337C>T (p.Asp779=)
c.2244C>T (p.Asp748=)
c.2163C>T (p.Asp721=)
c.2139C>T (p.Asp713=)
c.2046C>T (p.Asp682=)
c.1272C>T (p.Asp424=)
c.1185C>T (p.Asp395=)
c.1098C>T (p.Asp366=)
c.771+4416C>T (n.771+4416C>T)
n.905C>T
 dbSNP gnomAD v2 gnomAD v4
17g.46018695A>CCA399983826MAPTc.988A>C (p.Asn330His)
c.901A>C (p.Asn301His)
c.1075A>C (p.Asn359His)
n.846A>C
n.301A>C
n.259A>C
n.493A>C
c.2251A>C (p.Asn751His)
c.1960A>C (p.Asn654His)
c.895A>C (p.Asn299His)
c.1024A>C (p.Asn342His)
c.2026A>C (p.Asn676His)
c.808A>C (p.Asn270His)
c.2080A>C (p.Asn694His)
c.982A>C (p.Asn328His)
n.854A>C
n.6267A>C
c.2338A>C (p.Asn780His)
c.2245A>C (p.Asn749His)
c.2164A>C (p.Asn722His)
c.2140A>C (p.Asn714His)
c.2047A>C (p.Asn683His)
c.1273A>C (p.Asn425His)
c.1186A>C (p.Asn396His)
c.1099A>C (p.Asn367His)
c.771+4417A>C (n.771+4417A>C)
n.906A>C
17g.46018695A>GCA399983827MAPTc.988A>G (p.Asn330Asp)
c.901A>G (p.Asn301Asp)
c.1075A>G (p.Asn359Asp)
n.846A>G
n.301A>G
n.259A>G
n.493A>G
c.2251A>G (p.Asn751Asp)
c.1960A>G (p.Asn654Asp)
c.895A>G (p.Asn299Asp)
c.1024A>G (p.Asn342Asp)
c.2026A>G (p.Asn676Asp)
c.808A>G (p.Asn270Asp)
c.2080A>G (p.Asn694Asp)
c.982A>G (p.Asn328Asp)
n.854A>G
n.6267A>G
c.2338A>G (p.Asn780Asp)
c.2245A>G (p.Asn749Asp)
c.2164A>G (p.Asn722Asp)
c.2140A>G (p.Asn714Asp)
c.2047A>G (p.Asn683Asp)
c.1273A>G (p.Asn425Asp)
c.1186A>G (p.Asn396Asp)
c.1099A>G (p.Asn367Asp)
c.771+4417A>G (n.771+4417A>G)
n.906A>G
17g.46018695A>TCA399983829MAPTc.988A>T (p.Asn330Tyr)
c.901A>T (p.Asn301Tyr)
c.1075A>T (p.Asn359Tyr)
n.846A>T
n.301A>T
n.259A>T
n.493A>T
c.2251A>T (p.Asn751Tyr)
c.1960A>T (p.Asn654Tyr)
c.895A>T (p.Asn299Tyr)
c.1024A>T (p.Asn342Tyr)
c.2026A>T (p.Asn676Tyr)
c.808A>T (p.Asn270Tyr)
c.2080A>T (p.Asn694Tyr)
c.982A>T (p.Asn328Tyr)
n.854A>T
n.6267A>T
c.2338A>T (p.Asn780Tyr)
c.2245A>T (p.Asn749Tyr)
c.2164A>T (p.Asn722Tyr)
c.2140A>T (p.Asn714Tyr)
c.2047A>T (p.Asn683Tyr)
c.1273A>T (p.Asn425Tyr)
c.1186A>T (p.Asn396Tyr)
c.1099A>T (p.Asn367Tyr)
c.771+4417A>T (n.771+4417A>T)
n.906A>T
 gnomAD v4
17g.46018696A=CA2262104746MAPTc.989A= (p.Asn330=)
c.902A= (p.Asn301=)
c.1076A= (p.Asn359=)
n.847A=
n.302A=
n.260A=
n.494A=
c.2252A= (p.Asn751=)
c.1961A= (p.Asn654=)
c.896A= (p.Asn299=)
c.1025A= (p.Asn342=)
c.2027A= (p.Asn676=)
c.809A= (p.Asn270=)
c.2081A= (p.Asn694=)
c.983A= (p.Asn328=)
n.855A=
n.6268A=
c.2339A= (p.Asn780=)
c.2246A= (p.Asn749=)
c.2165A= (p.Asn722=)
c.2141A= (p.Asn714=)
c.2048A= (p.Asn683=)
c.1274A= (p.Asn425=)
c.1187A= (p.Asn396=)
c.1100A= (p.Asn367=)
c.771+4418A= (n.771+4418A=)
n.907A=
17g.46018696A>CCA399983831MAPTc.989A>C (p.Asn330Thr)
c.902A>C (p.Asn301Thr)
c.1076A>C (p.Asn359Thr)
n.847A>C
n.302A>C
n.260A>C
n.494A>C
c.2252A>C (p.Asn751Thr)
c.1961A>C (p.Asn654Thr)
c.896A>C (p.Asn299Thr)
c.1025A>C (p.Asn342Thr)
c.2027A>C (p.Asn676Thr)
c.809A>C (p.Asn270Thr)
c.2081A>C (p.Asn694Thr)
c.983A>C (p.Asn328Thr)
n.855A>C
n.6268A>C
c.2339A>C (p.Asn780Thr)
c.2246A>C (p.Asn749Thr)
c.2165A>C (p.Asn722Thr)
c.2141A>C (p.Asn714Thr)
c.2048A>C (p.Asn683Thr)
c.1274A>C (p.Asn425Thr)
c.1187A>C (p.Asn396Thr)
c.1100A>C (p.Asn367Thr)
c.771+4418A>C (n.771+4418A>C)
n.907A>C
17g.46018696A>GCA399983833MAPTc.989A>G (p.Asn330Ser)
c.902A>G (p.Asn301Ser)
c.1076A>G (p.Asn359Ser)
n.847A>G
n.302A>G
n.260A>G
n.494A>G
c.2252A>G (p.Asn751Ser)
c.1961A>G (p.Asn654Ser)
c.896A>G (p.Asn299Ser)
c.1025A>G (p.Asn342Ser)
c.2027A>G (p.Asn676Ser)
c.809A>G (p.Asn270Ser)
c.2081A>G (p.Asn694Ser)
c.983A>G (p.Asn328Ser)
n.855A>G
n.6268A>G
c.2339A>G (p.Asn780Ser)
c.2246A>G (p.Asn749Ser)
c.2165A>G (p.Asn722Ser)
c.2141A>G (p.Asn714Ser)
c.2048A>G (p.Asn683Ser)
c.1274A>G (p.Asn425Ser)
c.1187A>G (p.Asn396Ser)
c.1100A>G (p.Asn367Ser)
c.771+4418A>G (n.771+4418A>G)
n.907A>G
 dbSNP gnomAD v4
17g.46018696A>TCA399983835MAPTc.989A>T (p.Asn330Ile)
c.902A>T (p.Asn301Ile)
c.1076A>T (p.Asn359Ile)
n.847A>T
n.302A>T
n.260A>T
n.494A>T
c.2252A>T (p.Asn751Ile)
c.1961A>T (p.Asn654Ile)
c.896A>T (p.Asn299Ile)
c.1025A>T (p.Asn342Ile)
c.2027A>T (p.Asn676Ile)
c.809A>T (p.Asn270Ile)
c.2081A>T (p.Asn694Ile)
c.983A>T (p.Asn328Ile)
n.855A>T
n.6268A>T
c.2339A>T (p.Asn780Ile)
c.2246A>T (p.Asn749Ile)
c.2165A>T (p.Asn722Ile)
c.2141A>T (p.Asn714Ile)
c.2048A>T (p.Asn683Ile)
c.1274A>T (p.Asn425Ile)
c.1187A>T (p.Asn396Ile)
c.1100A>T (p.Asn367Ile)
c.771+4418A>T (n.771+4418A>T)
n.907A>T
17g.46018697T>ACA399983837MAPTc.990T>A (p.Asn330Lys)
c.903T>A (p.Asn301Lys)
c.1077T>A (p.Asn359Lys)
n.848T>A
n.303T>A
n.261T>A
n.495T>A
c.2253T>A (p.Asn751Lys)
c.1962T>A (p.Asn654Lys)
c.897T>A (p.Asn299Lys)
c.1026T>A (p.Asn342Lys)
c.2028T>A (p.Asn676Lys)
c.810T>A (p.Asn270Lys)
c.2082T>A (p.Asn694Lys)
c.984T>A (p.Asn328Lys)
n.856T>A
n.6269T>A
c.2340T>A (p.Asn780Lys)
c.2247T>A (p.Asn749Lys)
c.2166T>A (p.Asn722Lys)
c.2142T>A (p.Asn714Lys)
c.2049T>A (p.Asn683Lys)
c.1275T>A (p.Asn425Lys)
c.1188T>A (p.Asn396Lys)
c.1101T>A (p.Asn367Lys)
c.771+4419T>A (n.771+4419T>A)
n.908T>A
17g.46018697T>CCA500371272MAPTc.990T>C (p.Asn330=)
c.903T>C (p.Asn301=)
c.1077T>C (p.Asn359=)
n.848T>C
n.303T>C
n.261T>C
n.495T>C
c.2253T>C (p.Asn751=)
c.1962T>C (p.Asn654=)
c.897T>C (p.Asn299=)
c.1026T>C (p.Asn342=)
c.2028T>C (p.Asn676=)
c.810T>C (p.Asn270=)
c.2082T>C (p.Asn694=)
c.984T>C (p.Asn328=)
n.856T>C
n.6269T>C
c.2340T>C (p.Asn780=)
c.2247T>C (p.Asn749=)
c.2166T>C (p.Asn722=)
c.2142T>C (p.Asn714=)
c.2049T>C (p.Asn683=)
c.1275T>C (p.Asn425=)
c.1188T>C (p.Asn396=)
c.1101T>C (p.Asn367=)
c.771+4419T>C (n.771+4419T>C)
n.908T>C
 dbSNP
17g.46018697T>GCA399983838MAPTc.990T>G (p.Asn330Lys)
c.903T>G (p.Asn301Lys)
c.1077T>G (p.Asn359Lys)
n.848T>G
n.303T>G
n.261T>G
n.495T>G
c.2253T>G (p.Asn751Lys)
c.1962T>G (p.Asn654Lys)
c.897T>G (p.Asn299Lys)
c.1026T>G (p.Asn342Lys)
c.2028T>G (p.Asn676Lys)
c.810T>G (p.Asn270Lys)
c.2082T>G (p.Asn694Lys)
c.984T>G (p.Asn328Lys)
n.856T>G
n.6269T>G
c.2340T>G (p.Asn780Lys)
c.2247T>G (p.Asn749Lys)
c.2166T>G (p.Asn722Lys)
c.2142T>G (p.Asn714Lys)
c.2049T>G (p.Asn683Lys)
c.1275T>G (p.Asn425Lys)
c.1188T>G (p.Asn396Lys)
c.1101T>G (p.Asn367Lys)
c.771+4419T>G (n.771+4419T>G)
n.908T>G
17g.46018698A=CA2262104747MAPTc.991A= (p.Ile331=)
c.904A= (p.Ile302=)
c.1078A= (p.Ile360=)
n.849A=
n.304A=
n.262A=
n.496A=
c.2254A= (p.Ile752=)
c.1963A= (p.Ile655=)
c.898A= (p.Ile300=)
c.1027A= (p.Ile343=)
c.2029A= (p.Ile677=)
c.811A= (p.Ile271=)
c.2083A= (p.Ile695=)
c.985A= (p.Ile329=)
n.857A=
n.6270A=
c.2341A= (p.Ile781=)
c.2248A= (p.Ile750=)
c.2167A= (p.Ile723=)
c.2143A= (p.Ile715=)
c.2050A= (p.Ile684=)
c.1276A= (p.Ile426=)
c.1189A= (p.Ile397=)
c.1102A= (p.Ile368=)
c.771+4420A= (n.771+4420A=)
n.909A=
17g.46018698A>CCA399983841MAPTc.991A>C (p.Ile331Leu)
c.904A>C (p.Ile302Leu)
c.1078A>C (p.Ile360Leu)
n.849A>C
n.304A>C
n.262A>C
n.496A>C
c.2254A>C (p.Ile752Leu)
c.1963A>C (p.Ile655Leu)
c.898A>C (p.Ile300Leu)
c.1027A>C (p.Ile343Leu)
c.2029A>C (p.Ile677Leu)
c.811A>C (p.Ile271Leu)
c.2083A>C (p.Ile695Leu)
c.985A>C (p.Ile329Leu)
n.857A>C
n.6270A>C
c.2341A>C (p.Ile781Leu)
c.2248A>C (p.Ile750Leu)
c.2167A>C (p.Ile723Leu)
c.2143A>C (p.Ile715Leu)
c.2050A>C (p.Ile684Leu)
c.1276A>C (p.Ile426Leu)
c.1189A>C (p.Ile397Leu)
c.1102A>C (p.Ile368Leu)
c.771+4420A>C (n.771+4420A>C)
n.909A>C
17g.46018698A>GCA291114693MAPTc.991A>G (p.Ile331Val)
c.904A>G (p.Ile302Val)
c.1078A>G (p.Ile360Val)
n.849A>G
n.304A>G
n.262A>G
n.496A>G
c.2254A>G (p.Ile752Val)
c.1963A>G (p.Ile655Val)
c.898A>G (p.Ile300Val)
c.1027A>G (p.Ile343Val)
c.2029A>G (p.Ile677Val)
c.811A>G (p.Ile271Val)
c.2083A>G (p.Ile695Val)
c.985A>G (p.Ile329Val)
n.857A>G
n.6270A>G
c.2341A>G (p.Ile781Val)
c.2248A>G (p.Ile750Val)
c.2167A>G (p.Ile723Val)
c.2143A>G (p.Ile715Val)
c.2050A>G (p.Ile684Val)
c.1276A>G (p.Ile426Val)
c.1189A>G (p.Ile397Val)
c.1102A>G (p.Ile368Val)
c.771+4420A>G (n.771+4420A>G)
n.909A>G
 dbSNP
17g.46018698A>TCA399983842MAPTc.991A>T (p.Ile331Phe)
c.904A>T (p.Ile302Phe)
c.1078A>T (p.Ile360Phe)
n.849A>T
n.304A>T
n.262A>T
n.496A>T
c.2254A>T (p.Ile752Phe)
c.1963A>T (p.Ile655Phe)
c.898A>T (p.Ile300Phe)
c.1027A>T (p.Ile343Phe)
c.2029A>T (p.Ile677Phe)
c.811A>T (p.Ile271Phe)
c.2083A>T (p.Ile695Phe)
c.985A>T (p.Ile329Phe)
n.857A>T
n.6270A>T
c.2341A>T (p.Ile781Phe)
c.2248A>T (p.Ile750Phe)
c.2167A>T (p.Ile723Phe)
c.2143A>T (p.Ile715Phe)
c.2050A>T (p.Ile684Phe)
c.1276A>T (p.Ile426Phe)
c.1189A>T (p.Ile397Phe)
c.1102A>T (p.Ile368Phe)
c.771+4420A>T (n.771+4420A>T)
n.909A>T
17g.46018699T>ACA399983848MAPTc.992T>A (p.Ile331Asn)
c.905T>A (p.Ile302Asn)
c.1079T>A (p.Ile360Asn)
n.850T>A
n.305T>A
n.263T>A
n.497T>A
c.2255T>A (p.Ile752Asn)
c.1964T>A (p.Ile655Asn)
c.899T>A (p.Ile300Asn)
c.1028T>A (p.Ile343Asn)
c.2030T>A (p.Ile677Asn)
c.812T>A (p.Ile271Asn)
c.2084T>A (p.Ile695Asn)
c.986T>A (p.Ile329Asn)
n.858T>A
n.6271T>A
c.2342T>A (p.Ile781Asn)
c.2249T>A (p.Ile750Asn)
c.2168T>A (p.Ile723Asn)
c.2144T>A (p.Ile715Asn)
c.2051T>A (p.Ile684Asn)
c.1277T>A (p.Ile426Asn)
c.1190T>A (p.Ile397Asn)
c.1103T>A (p.Ile368Asn)
c.771+4421T>A (n.771+4421T>A)
n.910T>A
17g.46018699T>CCA399983846MAPTc.992T>C (p.Ile331Thr)
c.905T>C (p.Ile302Thr)
c.1079T>C (p.Ile360Thr)
n.850T>C
n.305T>C
n.263T>C
n.497T>C
c.2255T>C (p.Ile752Thr)
c.1964T>C (p.Ile655Thr)
c.899T>C (p.Ile300Thr)
c.1028T>C (p.Ile343Thr)
c.2030T>C (p.Ile677Thr)
c.812T>C (p.Ile271Thr)
c.2084T>C (p.Ile695Thr)
c.986T>C (p.Ile329Thr)
n.858T>C
n.6271T>C
c.2342T>C (p.Ile781Thr)
c.2249T>C (p.Ile750Thr)
c.2168T>C (p.Ile723Thr)
c.2144T>C (p.Ile715Thr)
c.2051T>C (p.Ile684Thr)
c.1277T>C (p.Ile426Thr)
c.1190T>C (p.Ile397Thr)
c.1103T>C (p.Ile368Thr)
c.771+4421T>C (n.771+4421T>C)
n.910T>C
17g.46018699T>GCA399983844MAPTc.992T>G (p.Ile331Ser)
c.905T>G (p.Ile302Ser)
c.1079T>G (p.Ile360Ser)
n.850T>G
n.305T>G
n.263T>G
n.497T>G
c.2255T>G (p.Ile752Ser)
c.1964T>G (p.Ile655Ser)
c.899T>G (p.Ile300Ser)
c.1028T>G (p.Ile343Ser)
c.2030T>G (p.Ile677Ser)
c.812T>G (p.Ile271Ser)
c.2084T>G (p.Ile695Ser)
c.986T>G (p.Ile329Ser)
n.858T>G
n.6271T>G
c.2342T>G (p.Ile781Ser)
c.2249T>G (p.Ile750Ser)
c.2168T>G (p.Ile723Ser)
c.2144T>G (p.Ile715Ser)
c.2051T>G (p.Ile684Ser)
c.1277T>G (p.Ile426Ser)
c.1190T>G (p.Ile397Ser)
c.1103T>G (p.Ile368Ser)
c.771+4421T>G (n.771+4421T>G)
n.910T>G
17g.46018700C>ACA500371273MAPTc.993C>A (p.Ile331=)
c.906C>A (p.Ile302=)
c.1080C>A (p.Ile360=)
n.851C>A
n.306C>A
n.264C>A
n.498C>A
c.2256C>A (p.Ile752=)
c.1965C>A (p.Ile655=)
c.900C>A (p.Ile300=)
c.1029C>A (p.Ile343=)
c.2031C>A (p.Ile677=)
c.813C>A (p.Ile271=)
c.2085C>A (p.Ile695=)
c.987C>A (p.Ile329=)
n.859C>A
n.6272C>A
c.2343C>A (p.Ile781=)
c.2250C>A (p.Ile750=)
c.2169C>A (p.Ile723=)
c.2145C>A (p.Ile715=)
c.2052C>A (p.Ile684=)
c.1278C>A (p.Ile426=)
c.1191C>A (p.Ile397=)
c.1104C>A (p.Ile368=)
c.771+4422C>A (n.771+4422C>A)
n.911C>A
17g.46018700C=CA2262104748MAPTc.993C= (p.Ile331=)
c.906C= (p.Ile302=)
c.1080C= (p.Ile360=)
n.851C=
n.306C=
n.264C=
n.498C=
c.2256C= (p.Ile752=)
c.1965C= (p.Ile655=)
c.900C= (p.Ile300=)
c.1029C= (p.Ile343=)
c.2031C= (p.Ile677=)
c.813C= (p.Ile271=)
c.2085C= (p.Ile695=)
c.987C= (p.Ile329=)
n.859C=
n.6272C=
c.2343C= (p.Ile781=)
c.2250C= (p.Ile750=)
c.2169C= (p.Ile723=)
c.2145C= (p.Ile715=)
c.2052C= (p.Ile684=)
c.1278C= (p.Ile426=)
c.1191C= (p.Ile397=)
c.1104C= (p.Ile368=)
c.771+4422C= (n.771+4422C=)
n.911C=
17g.46018700C>GCA399983849MAPTc.993C>G (p.Ile331Met)
c.906C>G (p.Ile302Met)
c.1080C>G (p.Ile360Met)
n.851C>G
n.306C>G
n.264C>G
n.498C>G
c.2256C>G (p.Ile752Met)
c.1965C>G (p.Ile655Met)
c.900C>G (p.Ile300Met)
c.1029C>G (p.Ile343Met)
c.2031C>G (p.Ile677Met)
c.813C>G (p.Ile271Met)
c.2085C>G (p.Ile695Met)
c.987C>G (p.Ile329Met)
n.859C>G
n.6272C>G
c.2343C>G (p.Ile781Met)
c.2250C>G (p.Ile750Met)
c.2169C>G (p.Ile723Met)
c.2145C>G (p.Ile715Met)
c.2052C>G (p.Ile684Met)
c.1278C>G (p.Ile426Met)
c.1191C>G (p.Ile397Met)
c.1104C>G (p.Ile368Met)
c.771+4422C>G (n.771+4422C>G)
n.911C>G
17g.46018700C>TCA500371274MAPTc.993C>T (p.Ile331=)
c.906C>T (p.Ile302=)
c.1080C>T (p.Ile360=)
n.851C>T
n.306C>T
n.264C>T
n.498C>T
c.2256C>T (p.Ile752=)
c.1965C>T (p.Ile655=)
c.900C>T (p.Ile300=)
c.1029C>T (p.Ile343=)
c.2031C>T (p.Ile677=)
c.813C>T (p.Ile271=)
c.2085C>T (p.Ile695=)
c.987C>T (p.Ile329=)
n.859C>T
n.6272C>T
c.2343C>T (p.Ile781=)
c.2250C>T (p.Ile750=)
c.2169C>T (p.Ile723=)
c.2145C>T (p.Ile715=)
c.2052C>T (p.Ile684=)
c.1278C>T (p.Ile426=)
c.1191C>T (p.Ile397=)
c.1104C>T (p.Ile368=)
c.771+4422C>T (n.771+4422C>T)
n.911C>T
 dbSNP gnomAD v2 gnomAD v4
17g.46018701delCA2576299051MAPTc.994del (p.Thr332ProfsTer16)
c.907del (p.Thr303ProfsTer16)
c.1081del (p.Thr361ProfsTer16)
n.852del
n.307del
n.265del
n.499del
c.2257del (p.Thr753ProfsTer16)
c.1966del (p.Thr656ProfsTer16)
c.901del (p.Thr301ProfsTer16)
c.1030del (p.Thr344ProfsTer16)
c.2032del (p.Thr678ProfsTer16)
c.814del (p.Thr272ProfsTer16)
c.2086del (p.Thr696ProfsTer16)
c.988del (p.Thr330ProfsTer16)
n.860del
n.6273del
c.2344del (p.Thr782ProfsTer16)
c.2251del (p.Thr751ProfsTer16)
c.2170del (p.Thr724ProfsTer16)
c.2146del (p.Thr716ProfsTer16)
c.2053del (p.Thr685ProfsTer16)
c.1279del (p.Thr427ProfsTer16)
c.1192del (p.Thr398ProfsTer16)
c.1105del (p.Thr369ProfsTer16)
c.771+4423del (n.771+4423del)
n.912del
17g.46018701A>CCA399983851MAPTc.994A>C (p.Thr332Pro)
c.907A>C (p.Thr303Pro)
c.1081A>C (p.Thr361Pro)
n.852A>C
n.307A>C
n.265A>C
n.499A>C
c.2257A>C (p.Thr753Pro)
c.1966A>C (p.Thr656Pro)
c.901A>C (p.Thr301Pro)
c.1030A>C (p.Thr344Pro)
c.2032A>C (p.Thr678Pro)
c.814A>C (p.Thr272Pro)
c.2086A>C (p.Thr696Pro)
c.988A>C (p.Thr330Pro)
n.860A>C
n.6273A>C
c.2344A>C (p.Thr782Pro)
c.2251A>C (p.Thr751Pro)
c.2170A>C (p.Thr724Pro)
c.2146A>C (p.Thr716Pro)
c.2053A>C (p.Thr685Pro)
c.1279A>C (p.Thr427Pro)
c.1192A>C (p.Thr398Pro)
c.1105A>C (p.Thr369Pro)
c.771+4423A>C (n.771+4423A>C)
n.912A>C
17g.46018701A>GCA399983853MAPTc.994A>G (p.Thr332Ala)
c.907A>G (p.Thr303Ala)
c.1081A>G (p.Thr361Ala)
n.852A>G
n.307A>G
n.265A>G
n.499A>G
c.2257A>G (p.Thr753Ala)
c.1966A>G (p.Thr656Ala)
c.901A>G (p.Thr301Ala)
c.1030A>G (p.Thr344Ala)
c.2032A>G (p.Thr678Ala)
c.814A>G (p.Thr272Ala)
c.2086A>G (p.Thr696Ala)
c.988A>G (p.Thr330Ala)
n.860A>G
n.6273A>G
c.2344A>G (p.Thr782Ala)
c.2251A>G (p.Thr751Ala)
c.2170A>G (p.Thr724Ala)
c.2146A>G (p.Thr716Ala)
c.2053A>G (p.Thr685Ala)
c.1279A>G (p.Thr427Ala)
c.1192A>G (p.Thr398Ala)
c.1105A>G (p.Thr369Ala)
c.771+4423A>G (n.771+4423A>G)
n.912A>G
17g.46018701A>TCA399983854MAPTc.994A>T (p.Thr332Ser)
c.907A>T (p.Thr303Ser)
c.1081A>T (p.Thr361Ser)
n.852A>T
n.307A>T
n.265A>T
n.499A>T
c.2257A>T (p.Thr753Ser)
c.1966A>T (p.Thr656Ser)
c.901A>T (p.Thr301Ser)
c.1030A>T (p.Thr344Ser)
c.2032A>T (p.Thr678Ser)
c.814A>T (p.Thr272Ser)
c.2086A>T (p.Thr696Ser)
c.988A>T (p.Thr330Ser)
n.860A>T
n.6273A>T
c.2344A>T (p.Thr782Ser)
c.2251A>T (p.Thr751Ser)
c.2170A>T (p.Thr724Ser)
c.2146A>T (p.Thr716Ser)
c.2053A>T (p.Thr685Ser)
c.1279A>T (p.Thr427Ser)
c.1192A>T (p.Thr398Ser)
c.1105A>T (p.Thr369Ser)
c.771+4423A>T (n.771+4423A>T)
n.912A>T
17g.46018702C>ACA399983857MAPTc.995C>A (p.Thr332Asn)
c.908C>A (p.Thr303Asn)
c.1082C>A (p.Thr361Asn)
n.853C>A
n.308C>A
n.266C>A
n.500C>A
c.2258C>A (p.Thr753Asn)
c.1967C>A (p.Thr656Asn)
c.902C>A (p.Thr301Asn)
c.1031C>A (p.Thr344Asn)
c.2033C>A (p.Thr678Asn)
c.815C>A (p.Thr272Asn)
c.2087C>A (p.Thr696Asn)
c.989C>A (p.Thr330Asn)
n.861C>A
n.6274C>A
c.2345C>A (p.Thr782Asn)
c.2252C>A (p.Thr751Asn)
c.2171C>A (p.Thr724Asn)
c.2147C>A (p.Thr716Asn)
c.2054C>A (p.Thr685Asn)
c.1280C>A (p.Thr427Asn)
c.1193C>A (p.Thr398Asn)
c.1106C>A (p.Thr369Asn)
c.771+4424C>A (n.771+4424C>A)
n.913C>A
 dbSNP gnomAD v2 gnomAD v4
17g.46018702C=CA2262104749MAPTc.995C= (p.Thr332=)
c.908C= (p.Thr303=)
c.1082C= (p.Thr361=)
n.853C=
n.308C=
n.266C=
n.500C=
c.2258C= (p.Thr753=)
c.1967C= (p.Thr656=)
c.902C= (p.Thr301=)
c.1031C= (p.Thr344=)
c.2033C= (p.Thr678=)
c.815C= (p.Thr272=)
c.2087C= (p.Thr696=)
c.989C= (p.Thr330=)
n.861C=
n.6274C=
c.2345C= (p.Thr782=)
c.2252C= (p.Thr751=)
c.2171C= (p.Thr724=)
c.2147C= (p.Thr716=)
c.2054C= (p.Thr685=)
c.1280C= (p.Thr427=)
c.1193C= (p.Thr398=)
c.1106C= (p.Thr369=)
c.771+4424C= (n.771+4424C=)
n.913C=
17g.46018702C>GCA399983858MAPTc.995C>G (p.Thr332Ser)
c.908C>G (p.Thr303Ser)
c.1082C>G (p.Thr361Ser)
n.853C>G
n.308C>G
n.266C>G
n.500C>G
c.2258C>G (p.Thr753Ser)
c.1967C>G (p.Thr656Ser)
c.902C>G (p.Thr301Ser)
c.1031C>G (p.Thr344Ser)
c.2033C>G (p.Thr678Ser)
c.815C>G (p.Thr272Ser)
c.2087C>G (p.Thr696Ser)
c.989C>G (p.Thr330Ser)
n.861C>G
n.6274C>G
c.2345C>G (p.Thr782Ser)
c.2252C>G (p.Thr751Ser)
c.2171C>G (p.Thr724Ser)
c.2147C>G (p.Thr716Ser)
c.2054C>G (p.Thr685Ser)
c.1280C>G (p.Thr427Ser)
c.1193C>G (p.Thr398Ser)
c.1106C>G (p.Thr369Ser)
c.771+4424C>G (n.771+4424C>G)
n.913C>G
17g.46018702C>TCA399983860MAPTc.995C>T (p.Thr332Ile)
c.908C>T (p.Thr303Ile)
c.1082C>T (p.Thr361Ile)
n.853C>T
n.308C>T
n.266C>T
n.500C>T
c.2258C>T (p.Thr753Ile)
c.1967C>T (p.Thr656Ile)
c.902C>T (p.Thr301Ile)
c.1031C>T (p.Thr344Ile)
c.2033C>T (p.Thr678Ile)
c.815C>T (p.Thr272Ile)
c.2087C>T (p.Thr696Ile)
c.989C>T (p.Thr330Ile)
n.861C>T
n.6274C>T
c.2345C>T (p.Thr782Ile)
c.2252C>T (p.Thr751Ile)
c.2171C>T (p.Thr724Ile)
c.2147C>T (p.Thr716Ile)
c.2054C>T (p.Thr685Ile)
c.1280C>T (p.Thr427Ile)
c.1193C>T (p.Thr398Ile)
c.1106C>T (p.Thr369Ile)
c.771+4424C>T (n.771+4424C>T)
n.913C>T
17g.46018703C>ACA500371276MAPTc.996C>A (p.Thr332=)
c.909C>A (p.Thr303=)
c.1083C>A (p.Thr361=)
n.309C>A
n.267C>A
n.501C>A
c.2259C>A (p.Thr753=)
c.1968C>A (p.Thr656=)
c.903C>A (p.Thr301=)
c.1032C>A (p.Thr344=)
c.2034C>A (p.Thr678=)
c.816C>A (p.Thr272=)
c.2088C>A (p.Thr696=)
c.990C>A (p.Thr330=)
n.862C>A
n.6275C>A
c.2346C>A (p.Thr782=)
c.2253C>A (p.Thr751=)
c.2172C>A (p.Thr724=)
c.2148C>A (p.Thr716=)
c.2055C>A (p.Thr685=)
c.1281C>A (p.Thr427=)
c.1194C>A (p.Thr398=)
c.1107C>A (p.Thr369=)
c.771+4425C>A (n.771+4425C>A)
n.914C>A
17g.46018703C=CA2262104750MAPTc.996C= (p.Thr332=)
c.909C= (p.Thr303=)
c.1083C= (p.Thr361=)
n.309C=
n.267C=
n.501C=
c.2259C= (p.Thr753=)
c.1968C= (p.Thr656=)
c.903C= (p.Thr301=)
c.1032C= (p.Thr344=)
c.2034C= (p.Thr678=)
c.816C= (p.Thr272=)
c.2088C= (p.Thr696=)
c.990C= (p.Thr330=)
n.862C=
n.6275C=
c.2346C= (p.Thr782=)
c.2253C= (p.Thr751=)
c.2172C= (p.Thr724=)
c.2148C= (p.Thr716=)
c.2055C= (p.Thr685=)
c.1281C= (p.Thr427=)
c.1194C= (p.Thr398=)
c.1107C= (p.Thr369=)
c.771+4425C= (n.771+4425C=)
n.914C=
17g.46018703C>GCA500371277MAPTc.996C>G (p.Thr332=)
c.909C>G (p.Thr303=)
c.1083C>G (p.Thr361=)
n.309C>G
n.267C>G
n.501C>G
c.2259C>G (p.Thr753=)
c.1968C>G (p.Thr656=)
c.903C>G (p.Thr301=)
c.1032C>G (p.Thr344=)
c.2034C>G (p.Thr678=)
c.816C>G (p.Thr272=)
c.2088C>G (p.Thr696=)
c.990C>G (p.Thr330=)
n.862C>G
n.6275C>G
c.2346C>G (p.Thr782=)
c.2253C>G (p.Thr751=)
c.2172C>G (p.Thr724=)
c.2148C>G (p.Thr716=)
c.2055C>G (p.Thr685=)
c.1281C>G (p.Thr427=)
c.1194C>G (p.Thr398=)
c.1107C>G (p.Thr369=)
c.771+4425C>G (n.771+4425C>G)
n.914C>G
17g.46018703C>TCA500371275MAPTc.996C>T (p.Thr332=)
c.909C>T (p.Thr303=)
c.1083C>T (p.Thr361=)
n.309C>T
n.267C>T
n.501C>T
c.2259C>T (p.Thr753=)
c.1968C>T (p.Thr656=)
c.903C>T (p.Thr301=)
c.1032C>T (p.Thr344=)
c.2034C>T (p.Thr678=)
c.816C>T (p.Thr272=)
c.2088C>T (p.Thr696=)
c.990C>T (p.Thr330=)
n.862C>T
n.6275C>T
c.2346C>T (p.Thr782=)
c.2253C>T (p.Thr751=)
c.2172C>T (p.Thr724=)
c.2148C>T (p.Thr716=)
c.2055C>T (p.Thr685=)
c.1281C>T (p.Thr427=)
c.1194C>T (p.Thr398=)
c.1107C>T (p.Thr369=)
c.771+4425C>T (n.771+4425C>T)
n.914C>T
 dbSNP gnomAD v2 gnomAD v4
17g.46018704C>ACA399983862MAPTc.997C>A (p.His333Asn)
c.910C>A (p.His304Asn)
c.1084C>A (p.His362Asn)
n.310C>A
n.268C>A
n.502C>A
c.2260C>A (p.His754Asn)
c.1969C>A (p.His657Asn)
c.904C>A (p.His302Asn)
c.1033C>A (p.His345Asn)
c.2035C>A (p.His679Asn)
c.817C>A (p.His273Asn)
c.2089C>A (p.His697Asn)
c.991C>A (p.His331Asn)
n.863C>A
n.6276C>A
c.2347C>A (p.His783Asn)
c.2254C>A (p.His752Asn)
c.2173C>A (p.His725Asn)
c.2149C>A (p.His717Asn)
c.2056C>A (p.His686Asn)
c.1282C>A (p.His428Asn)
c.1195C>A (p.His399Asn)
c.1108C>A (p.His370Asn)
c.771+4426C>A (n.771+4426C>A)
n.915C>A
17g.46018704C=CA2262104751MAPTc.997C= (p.His333=)
c.910C= (p.His304=)
c.1084C= (p.His362=)
n.310C=
n.268C=
n.502C=
c.2260C= (p.His754=)
c.1969C= (p.His657=)
c.904C= (p.His302=)
c.1033C= (p.His345=)
c.2035C= (p.His679=)
c.817C= (p.His273=)
c.2089C= (p.His697=)
c.991C= (p.His331=)
n.863C=
n.6276C=
c.2347C= (p.His783=)
c.2254C= (p.His752=)
c.2173C= (p.His725=)
c.2149C= (p.His717=)
c.2056C= (p.His686=)
c.1282C= (p.His428=)
c.1195C= (p.His399=)
c.1108C= (p.His370=)
c.771+4426C= (n.771+4426C=)
n.915C=
17g.46018704C>GCA399983864MAPTc.997C>G (p.His333Asp)
c.910C>G (p.His304Asp)
c.1084C>G (p.His362Asp)
n.310C>G
n.268C>G
n.502C>G
c.2260C>G (p.His754Asp)
c.1969C>G (p.His657Asp)
c.904C>G (p.His302Asp)
c.1033C>G (p.His345Asp)
c.2035C>G (p.His679Asp)
c.817C>G (p.His273Asp)
c.2089C>G (p.His697Asp)
c.991C>G (p.His331Asp)
n.863C>G
n.6276C>G
c.2347C>G (p.His783Asp)
c.2254C>G (p.His752Asp)
c.2173C>G (p.His725Asp)
c.2149C>G (p.His717Asp)
c.2056C>G (p.His686Asp)
c.1282C>G (p.His428Asp)
c.1195C>G (p.His399Asp)
c.1108C>G (p.His370Asp)
c.771+4426C>G (n.771+4426C>G)
n.915C>G
17g.46018704C>TCA399983865MAPTc.997C>T (p.His333Tyr)
c.910C>T (p.His304Tyr)
c.1084C>T (p.His362Tyr)
n.310C>T
n.268C>T
n.502C>T
c.2260C>T (p.His754Tyr)
c.1969C>T (p.His657Tyr)
c.904C>T (p.His302Tyr)
c.1033C>T (p.His345Tyr)
c.2035C>T (p.His679Tyr)
c.817C>T (p.His273Tyr)
c.2089C>T (p.His697Tyr)
c.991C>T (p.His331Tyr)
n.863C>T
n.6276C>T
c.2347C>T (p.His783Tyr)
c.2254C>T (p.His752Tyr)
c.2173C>T (p.His725Tyr)
c.2149C>T (p.His717Tyr)
c.2056C>T (p.His686Tyr)
c.1282C>T (p.His428Tyr)
c.1195C>T (p.His399Tyr)
c.1108C>T (p.His370Tyr)
c.771+4426C>T (n.771+4426C>T)
n.915C>T
 ClinVar dbSNP
17g.46018705A>CCA399983867MAPTc.998A>C (p.His333Pro)
c.911A>C (p.His304Pro)
c.1085A>C (p.His362Pro)
n.311A>C
n.269A>C
n.503A>C
c.2261A>C (p.His754Pro)
c.1970A>C (p.His657Pro)
c.905A>C (p.His302Pro)
c.1034A>C (p.His345Pro)
c.2036A>C (p.His679Pro)
c.818A>C (p.His273Pro)
c.2090A>C (p.His697Pro)
c.992A>C (p.His331Pro)
n.864A>C
n.6277A>C
c.2348A>C (p.His783Pro)
c.2255A>C (p.His752Pro)
c.2174A>C (p.His725Pro)
c.2150A>C (p.His717Pro)
c.2057A>C (p.His686Pro)
c.1283A>C (p.His428Pro)
c.1196A>C (p.His399Pro)
c.1109A>C (p.His370Pro)
c.771+4427A>C (n.771+4427A>C)
n.916A>C
17g.46018705A>GCA399983869MAPTc.998A>G (p.His333Arg)
c.911A>G (p.His304Arg)
c.1085A>G (p.His362Arg)
n.311A>G
n.269A>G
n.503A>G
c.2261A>G (p.His754Arg)
c.1970A>G (p.His657Arg)
c.905A>G (p.His302Arg)
c.1034A>G (p.His345Arg)
c.2036A>G (p.His679Arg)
c.818A>G (p.His273Arg)
c.2090A>G (p.His697Arg)
c.992A>G (p.His331Arg)
n.864A>G
n.6277A>G
c.2348A>G (p.His783Arg)
c.2255A>G (p.His752Arg)
c.2174A>G (p.His725Arg)
c.2150A>G (p.His717Arg)
c.2057A>G (p.His686Arg)
c.1283A>G (p.His428Arg)
c.1196A>G (p.His399Arg)
c.1109A>G (p.His370Arg)
c.771+4427A>G (n.771+4427A>G)
n.916A>G
17g.46018705A>TCA399983871MAPTc.998A>T (p.His333Leu)
c.911A>T (p.His304Leu)
c.1085A>T (p.His362Leu)
n.311A>T
n.269A>T
n.503A>T
c.2261A>T (p.His754Leu)
c.1970A>T (p.His657Leu)
c.905A>T (p.His302Leu)
c.1034A>T (p.His345Leu)
c.2036A>T (p.His679Leu)
c.818A>T (p.His273Leu)
c.2090A>T (p.His697Leu)
c.992A>T (p.His331Leu)
n.864A>T
n.6277A>T
c.2348A>T (p.His783Leu)
c.2255A>T (p.His752Leu)
c.2174A>T (p.His725Leu)
c.2150A>T (p.His717Leu)
c.2057A>T (p.His686Leu)
c.1283A>T (p.His428Leu)
c.1196A>T (p.His399Leu)
c.1109A>T (p.His370Leu)
c.771+4427A>T (n.771+4427A>T)
n.916A>T
17g.46018706C>ACA399983874MAPTc.999C>A (p.His333Gln)
c.912C>A (p.His304Gln)
c.1086C>A (p.His362Gln)
n.312C>A
n.270C>A
n.504C>A
c.2262C>A (p.His754Gln)
c.1971C>A (p.His657Gln)
c.906C>A (p.His302Gln)
c.1035C>A (p.His345Gln)
c.2037C>A (p.His679Gln)
c.819C>A (p.His273Gln)
c.2091C>A (p.His697Gln)
c.993C>A (p.His331Gln)
n.865C>A
n.6278C>A
c.2349C>A (p.His783Gln)
c.2256C>A (p.His752Gln)
c.2175C>A (p.His725Gln)
c.2151C>A (p.His717Gln)
c.2058C>A (p.His686Gln)
c.1284C>A (p.His428Gln)
c.1197C>A (p.His399Gln)
c.1110C>A (p.His370Gln)
c.771+4428C>A (n.771+4428C>A)
n.917C>A
17g.46018706C=CA2262104752MAPTc.999C= (p.His333=)
c.912C= (p.His304=)
c.1086C= (p.His362=)
n.312C=
n.270C=
n.504C=
c.2262C= (p.His754=)
c.1971C= (p.His657=)
c.906C= (p.His302=)
c.1035C= (p.His345=)
c.2037C= (p.His679=)
c.819C= (p.His273=)
c.2091C= (p.His697=)
c.993C= (p.His331=)
n.865C=
n.6278C=
c.2349C= (p.His783=)
c.2256C= (p.His752=)
c.2175C= (p.His725=)
c.2151C= (p.His717=)
c.2058C= (p.His686=)
c.1284C= (p.His428=)
c.1197C= (p.His399=)
c.1110C= (p.His370=)
c.771+4428C= (n.771+4428C=)
n.917C=
17g.46018706C>GCA399983876MAPTc.999C>G (p.His333Gln)
c.912C>G (p.His304Gln)
c.1086C>G (p.His362Gln)
n.312C>G
n.270C>G
n.504C>G
c.2262C>G (p.His754Gln)
c.1971C>G (p.His657Gln)
c.906C>G (p.His302Gln)
c.1035C>G (p.His345Gln)
c.2037C>G (p.His679Gln)
c.819C>G (p.His273Gln)
c.2091C>G (p.His697Gln)
c.993C>G (p.His331Gln)
n.865C>G
n.6278C>G
c.2349C>G (p.His783Gln)
c.2256C>G (p.His752Gln)
c.2175C>G (p.His725Gln)
c.2151C>G (p.His717Gln)
c.2058C>G (p.His686Gln)
c.1284C>G (p.His428Gln)
c.1197C>G (p.His399Gln)
c.1110C>G (p.His370Gln)
c.771+4428C>G (n.771+4428C>G)
n.917C>G
17g.46018706C>TCA8618230MAPTc.999C>T (p.His333=)
c.912C>T (p.His304=)
c.1086C>T (p.His362=)
n.312C>T
n.270C>T
n.504C>T
c.2262C>T (p.His754=)
c.1971C>T (p.His657=)
c.906C>T (p.His302=)
c.1035C>T (p.His345=)
c.2037C>T (p.His679=)
c.819C>T (p.His273=)
c.2091C>T (p.His697=)
c.993C>T (p.His331=)
n.865C>T
n.6278C>T
c.2349C>T (p.His783=)
c.2256C>T (p.His752=)
c.2175C>T (p.His725=)
c.2151C>T (p.His717=)
c.2058C>T (p.His686=)
c.1284C>T (p.His428=)
c.1197C>T (p.His399=)
c.1110C>T (p.His370=)
c.771+4428C>T (n.771+4428C>T)
n.917C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46018707G>ACA225490MAPTc.1000G>A (p.Val334Ile)
c.913G>A (p.Val305Ile)
c.1087G>A (p.Val363Ile)
n.313G>A
n.271G>A
n.505G>A
c.2263G>A (p.Val755Ile)
c.1972G>A (p.Val658Ile)
c.907G>A (p.Val303Ile)
c.1036G>A (p.Val346Ile)
c.2038G>A (p.Val680Ile)
c.820G>A (p.Val274Ile)
c.2092G>A (p.Val698Ile)
c.994G>A (p.Val332Ile)
n.866G>A
n.6279G>A
c.2350G>A (p.Val784Ile)
c.2257G>A (p.Val753Ile)
c.2176G>A (p.Val726Ile)
c.2152G>A (p.Val718Ile)
c.2059G>A (p.Val687Ile)
c.1285G>A (p.Val429Ile)
c.1198G>A (p.Val400Ile)
c.1111G>A (p.Val371Ile)
c.771+4429G>A (n.771+4429G>A)
n.918G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.46018707G>CCA399983881MAPTc.1000G>C (p.Val334Leu)
c.913G>C (p.Val305Leu)
c.1087G>C (p.Val363Leu)
n.313G>C
n.271G>C
n.505G>C
c.2263G>C (p.Val755Leu)
c.1972G>C (p.Val658Leu)
c.907G>C (p.Val303Leu)
c.1036G>C (p.Val346Leu)
c.2038G>C (p.Val680Leu)
c.820G>C (p.Val274Leu)
c.2092G>C (p.Val698Leu)
c.994G>C (p.Val332Leu)
n.866G>C
n.6279G>C
c.2350G>C (p.Val784Leu)
c.2257G>C (p.Val753Leu)
c.2176G>C (p.Val726Leu)
c.2152G>C (p.Val718Leu)
c.2059G>C (p.Val687Leu)
c.1285G>C (p.Val429Leu)
c.1198G>C (p.Val400Leu)
c.1111G>C (p.Val371Leu)
c.771+4429G>C (n.771+4429G>C)
n.918G>C
17g.46018707G=CA2262104753MAPTc.1000G= (p.Val334=)
c.913G= (p.Val305=)
c.1087G= (p.Val363=)
n.313G=
n.271G=
n.505G=
c.2263G= (p.Val755=)
c.1972G= (p.Val658=)
c.907G= (p.Val303=)
c.1036G= (p.Val346=)
c.2038G= (p.Val680=)
c.820G= (p.Val274=)
c.2092G= (p.Val698=)
c.994G= (p.Val332=)
n.866G=
n.6279G=
c.2350G= (p.Val784=)
c.2257G= (p.Val753=)
c.2176G= (p.Val726=)
c.2152G= (p.Val718=)
c.2059G= (p.Val687=)
c.1285G= (p.Val429=)
c.1198G= (p.Val400=)
c.1111G= (p.Val371=)
c.771+4429G= (n.771+4429G=)
n.918G=
17g.46018707G>TCA399983879MAPTc.1000G>T (p.Val334Phe)
c.913G>T (p.Val305Phe)
c.1087G>T (p.Val363Phe)
n.313G>T
n.271G>T
n.505G>T
c.2263G>T (p.Val755Phe)
c.1972G>T (p.Val658Phe)
c.907G>T (p.Val303Phe)
c.1036G>T (p.Val346Phe)
c.2038G>T (p.Val680Phe)
c.820G>T (p.Val274Phe)
c.2092G>T (p.Val698Phe)
c.994G>T (p.Val332Phe)
n.866G>T
n.6279G>T
c.2350G>T (p.Val784Phe)
c.2257G>T (p.Val753Phe)
c.2176G>T (p.Val726Phe)
c.2152G>T (p.Val718Phe)
c.2059G>T (p.Val687Phe)
c.1285G>T (p.Val429Phe)
c.1198G>T (p.Val400Phe)
c.1111G>T (p.Val371Phe)
c.771+4429G>T (n.771+4429G>T)
n.918G>T

Number of alleles fetched